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Gene: PMF1-BGLAP (PMF1-BGLAP readthrough) Homo sapiens

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Symbol:

PMF1-BGLAP

Name:

PMF1-BGLAP readthrough

RGD ID:

5507928

HGNC Page

HGNC:42953

Description:

Enables leucine zipper domain binding activity and transcription coactivator activity. Involved in chromosome segregation. Located in Golgi apparatus; kinetochore; and nucleoplasm. Part of MIS12/MIND type complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ12287; PMF-1; PMF1; polyamine-modulated factor 1

RGD Orthologs

Pig

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Sus scrofa (pig):	PMF1 (polyamine modulated factor 1)	HGNC	EggNOG, Ensembl, OrthoDB, Panther, Treefam
Alliance orthologs ³
Mus musculus (house mouse):	Pmf1 (polyamine-modulated factor 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Pmf1 (polyamine-modulated factor 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	si:dkey-6i22.5	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	NNF1	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	pmf1	Alliance	DIOPT (Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	156,212,988 - 156,243,332 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	156,212,982 - 156,243,332 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	156,182,779 - 156,213,123 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	1	q22	NCBI
HuRef	1	127,544,511 - 127,574,222 (+)	NCBI		HuRef
CHM1_1	1	157,578,747 - 157,609,096 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	155,351,442 - 155,381,789 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PMF1-BGLAP	Human	Charcot-Marie-Tooth disease type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	ClinVar	PMID:18585512 more ...
PMF1-BGLAP	Human	Charcot-Marie-Tooth disease type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	ClinVar	PMID:28492532 and PMID:29845577
PMF1-BGLAP	Human	Charcot-Marie-Tooth disease type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	ClinVar	PMID:28492532
PMF1-BGLAP	Human	gastrointestinal stromal tumor		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
PMF1-BGLAP	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
PMF1-BGLAP	Human	immunodeficiency 42		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	ClinVar	PMID:28492532
PMF1-BGLAP	Human	MHC class II deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: MHC class II deficiency	ClinVar	PMID:28492532
PMF1-BGLAP	Human	parathyroid carcinoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532
PMF1-BGLAP	Human	severe congenital neutropenia 3		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Kostmann syndrome	ClinVar	PMID:28492532
PMF1-BGLAP	Human	severe congenital neutropenia 5		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome	ClinVar	PMID:28492532

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PMF1-BGLAP	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of PMF1-BGLAP mRNA	CTD	PMID:27392435
PMF1-BGLAP	Human	rotenone	increases expression	EXP		6480464	Rotenone results in increased expression of PMF1-BGLAP mRNA	CTD	PMID:29955902
PMF1-BGLAP	Human	trichostatin A	affects expression	EXP		6480464	trichostatin A affects the expression of PMF1-BGLAP mRNA	CTD	PMID:28542535
PMF1-BGLAP	Human	urethane	decreases expression	EXP		6480464	Urethane results in decreased expression of PMF1-BGLAP mRNA	CTD	PMID:28818685
PMF1-BGLAP	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of PMF1-BGLAP mRNA	CTD	PMID:26272509 and PMID:28001369

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PMF1-BGLAP	Human	attachment of spindle microtubules to kinetochore	involved_in	NAS		150520179	PMID:21633384	ComplexPortal	PMID:21633384
PMF1-BGLAP	Human	cell division	involved_in	IEA	UniProtKB-KW:KW-0132	150520179		UniProt	GO_REF:0000043
PMF1-BGLAP	Human	chromosome segregation	involved_in	IEA	UniProtKB-KW:KW-0159	150520179		UniProt	GO_REF:0000043
PMF1-BGLAP	Human	chromosome segregation	involved_in	IBA	PANTHER:PTN001035903 more ...	150520179		GO_Central	GO_REF:0000033
PMF1-BGLAP	Human	chromosome segregation	involved_in	IMP		150520179	PMID:15502821	UniProt	PMID:15502821
PMF1-BGLAP	Human	positive regulation of DNA-templated transcription	involved_in	IEA	GO:0003713	150520179		GOC	GO_REF:0000108
PMF1-BGLAP	Human	transcription by RNA polymerase II	involved_in	TAS		150520179	PMID:10419538	PINC	PMID:10419538

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PMF1-BGLAP	Human	chromosome	located_in	IEA	UniProtKB-KW:KW-0158	150520179		UniProt	GO_REF:0000043
PMF1-BGLAP	Human	chromosome, centromeric region	located_in	IEA	UniProtKB-KW:KW-0137	150520179		UniProt	GO_REF:0000043
PMF1-BGLAP	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-141409 more ...
PMF1-BGLAP	Human	Golgi apparatus	located_in	IDA		150520179		HPA	GO_REF:0000052
PMF1-BGLAP	Human	intracellular membrane-bounded organelle	located_in	IDA		150520179		HPA	GO_REF:0000052
PMF1-BGLAP	Human	kinetochore	located_in	IDA		150520179	PMID:15371340	WB	PMID:15371340
PMF1-BGLAP	Human	kinetochore	located_in	NAS		150520179	PMID:21633384 and PMID:23418356	ComplexPortal	PMID:21633384 and PMID:23418356
PMF1-BGLAP	Human	kinetochore	located_in	IEA	UniProtKB-KW:KW-0995	150520179		UniProt	GO_REF:0000043
PMF1-BGLAP	Human	MIS12/MIND type complex	part_of	IBA	PANTHER:PTN001035903 more ...	150520179		GO_Central	GO_REF:0000033
PMF1-BGLAP	Human	MIS12/MIND type complex	part_of	IDA		150520179	PMID:16585270 more ...	UniProt	PMID:16585270 more ...
PMF1-BGLAP	Human	MIS12/MIND type complex	part_of	IEA	InterPro:IPR007128	150520179		InterPro	GO_REF:0000002
PMF1-BGLAP	Human	MIS12/MIND type complex	part_of	NAS		150520179	PMID:21633384	ComplexPortal	PMID:21633384
PMF1-BGLAP	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
PMF1-BGLAP	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
PMF1-BGLAP	Human	nucleus	located_in	NAS		150520179	PMID:21633384	ComplexPortal	PMID:21633384
PMF1-BGLAP	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
PMF1-BGLAP	Human	outer kinetochore	part_of	IDA		150520179	PMID:24530301	UniProt	PMID:24530301
PMF1-BGLAP	Human	spindle pole	located_in	NAS		150520179	PMID:21633384	ComplexPortal	PMID:21633384
PMF1-BGLAP	Human	transcription regulator complex	part_of	TAS		150520179	PMID:10419538	PINC	PMID:10419538

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PMF1-BGLAP	Human	leucine zipper domain binding	enables	IPI	UniProtKB:Q16236	150520179	PMID:11256947	UniProt	PMID:11256947
PMF1-BGLAP	Human	protein binding	enables	IPI	UniProtKB:Q9H081 and UniProtKB:Q9NWV8	150520179	PMID:37398436	IntAct	PMID:37398436
PMF1-BGLAP	Human	protein binding	enables	IPI	UniProtKB:O14901 more ...	150520179	PMID:32814053	IntAct	PMID:32814053
PMF1-BGLAP	Human	protein binding	enables	IPI	UniProtKB:Q9H081 and UniProtKB:Q9H410	150520179	PMID:15502821	UniProt	PMID:15502821
PMF1-BGLAP	Human	protein binding	enables	IPI	UniProtKB:Q8N6Y0 and UniProtKB:Q9H081	150520179	PMID:25416956	IntAct	PMID:25416956
PMF1-BGLAP	Human	protein binding	enables	IPI	UniProtKB:Q16236	150520179	PMID:32911434	IntAct	PMID:32911434
PMF1-BGLAP	Human	protein binding	enables	IPI	UniProtKB:Q14696 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
PMF1-BGLAP	Human	protein binding	enables	IPI	UniProtKB:Q9H081	150520179	PMID:15371340 more ...	IntAct	PMID:15371340 more ...
PMF1-BGLAP	Human	protein binding	enables	IPI	UniProtKB:Q8TD16-2 more ...	150520179	PMID:28514442	IntAct	PMID:28514442
PMF1-BGLAP	Human	transcription coactivator activity	enables	IMP		150520179	PMID:11256947	UniProt	PMID:11256947
PMF1-BGLAP	Human	transcription coactivator activity	enables	TAS		150520179	PMID:10419538	PINC	PMID:10419538

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PMF1-BGLAP	Human	Gastrointestinal stroma tumor		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
PMF1-BGLAP	Human	Parathyroid carcinoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:12477932	PMID:20967262	PMID:24656865	PMID:27705803	PMID:29117863	PMID:32296183	PMID:33961781	PMID:34373451	PMID:37866880

PMF1-BGLAP
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	156,212,988 - 156,243,332 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	156,212,982 - 156,243,332 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	156,182,779 - 156,213,123 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	1	q22	NCBI
HuRef	1	127,544,511 - 127,574,222 (+)	NCBI		HuRef
CHM1_1	1	157,578,747 - 157,609,096 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	155,351,442 - 155,381,789 (+)	NCBI		T2T-CHM13v2.0

PMF1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	93,810,507 - 93,837,652 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	93,810,863 - 93,836,786 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	102,553,352 - 102,579,193 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Variants in PMF1-BGLAP
40 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1q22(chr1:155834419-156434205)x3	copy number gain	See cases [RCV000138885]	Chr1:155834419..156434205 [GRCh38] Chr1:155804210..156403997 [GRCh37] Chr1:154070834..154670621 [NCBI36] Chr1:1q22	uncertain significance
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	copy number gain	See cases [RCV000139902]	Chr1:154566501..157624084 [GRCh38] Chr1:154538977..157593874 [GRCh37] Chr1:152805601..155860498 [NCBI36] Chr1:1q21.3-23.1	pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	copy number gain	See cases [RCV000143515]	Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2	pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	copy number gain	not provided [RCV000585385]	Chr1:153751465..156660462 [GRCh37] Chr1:1q21.3-23.1	likely pathogenic
GRCh37/hg19 1q22(chr1:156070888-156238593)x1	copy number loss	See cases [RCV000599483]	Chr1:156070888..156238593 [GRCh37] Chr1:1q22	pathogenic
GRCh37/hg19 1q22(chr1:155902781-156210031)x3	copy number gain	See cases [RCV000447140]	Chr1:155902781..156210031 [GRCh37] Chr1:1q22	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_001199661.1(PMF1-BGLAP):c.260C>A (p.Ser87Tyr)	single nucleotide variant	not specified [RCV004316692]	Chr1:156232418 [GRCh38] Chr1:156202209 [GRCh37] Chr1:1q22	uncertain significance
Single allele	inversion	Pediatric metastatic thyroid tumour [RCV000585807]	Chr1:154130985..156843877 [GRCh37] Chr1:1q21.3-23.1	likely pathogenic
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	copy number loss	not provided [RCV000684658]	Chr1:155636337..158024499 [GRCh37] Chr1:1q22-23.1	pathogenic
GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	copy number gain	not provided [RCV000684659]	Chr1:155999570..156844432 [GRCh37] Chr1:1q22-23.1	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
LMNA-NTRK1 fusion	fusion	Congenital fibrosarcoma [RCV000754610]	Chr1:156100565..156844697 [GRCh37] Chr1:1q22-23.1	pathogenic
NM_007221.4(PMF1):c.508C>T (p.Arg170Trp)	single nucleotide variant	Inborn genetic diseases [RCV003289631]	Chr1:156236427 [GRCh38] Chr1:156206218 [GRCh37] Chr1:1q22	uncertain significance
GRCh37/hg19 1q22(chr1:156037369-156463980)x3	copy number gain	not provided [RCV000846254]	Chr1:156037369..156463980 [GRCh37] Chr1:1q22	uncertain significance
NC_000001.11:g.(?_156114919)_(156243162_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV000823232]	Chr1:156114919..156243162 [GRCh38] Chr1:156084710..156212953 [GRCh37] Chr1:1q22	pathogenic
GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	copy number gain	not provided [RCV000848811]	Chr1:155770505..156652136 [GRCh37] Chr1:1q22-23.1	uncertain significance
NM_199173.6(BGLAP):c.281G>A (p.Arg94Gln)	single nucleotide variant	not provided [RCV000961307]	Chr1:156243140 [GRCh38] Chr1:156212931 [GRCh37] Chr1:1q22	benign
GRCh37/hg19 1q22(chr1:155489474-156196407)x3	copy number gain	not provided [RCV002473771]	Chr1:155489474..156196407 [GRCh37] Chr1:1q22	uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup	duplication	Gastrointestinal stromal tumor [RCV001300221]\|Parathyroid carcinoma [RCV001341077]	Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44	uncertain significance
NC_000001.10:g.(?_155581953)_(156851434_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV001983077]	Chr1:155581953..156851434 [GRCh37] Chr1:1q22-23.1	pathogenic
GRCh37/hg19 1q22(chr1:156034721-156240338)	copy number gain	not specified [RCV002053647]	Chr1:156034721..156240338 [GRCh37] Chr1:1q22	uncertain significance
GRCh37/hg19 1q22(chr1:155902781-156210031)	copy number gain	not specified [RCV002053636]	Chr1:155902781..156210031 [GRCh37] Chr1:1q22	uncertain significance
NC_000001.10:g.(?_154141761)_(156851434_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV001990060]	Chr1:154141761..156851434 [GRCh37] Chr1:1q21.3-23.1	uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup	duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]\|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]\|Kostmann syndrome [RCV003120769]\|MHC class II deficiency [RCV001992607]	Chr1:149895434..156851434 [GRCh37] Chr1:1q21.2-23.1	uncertain significance
NM_001199661.1(PMF1-BGLAP):c.604A>G (p.Met202Val)	single nucleotide variant	not specified [RCV004100935]	Chr1:156242823 [GRCh38] Chr1:156212614 [GRCh37] Chr1:1q22	uncertain significance
NM_007221.4(PMF1):c.162-6726C>T	single nucleotide variant	not specified [RCV004148935]	Chr1:156225594 [GRCh38] Chr1:156195385 [GRCh37] Chr1:1q22	uncertain significance
NM_199173.6(BGLAP):c.292G>A (p.Gly98Ser)	single nucleotide variant	not specified [RCV004212938]	Chr1:156243151 [GRCh38] Chr1:156212942 [GRCh37] Chr1:1q22	uncertain significance
NM_199173.6(BGLAP):c.89C>A (p.Ser30Tyr)	single nucleotide variant	not specified [RCV004160719]	Chr1:156242577 [GRCh38] Chr1:156212368 [GRCh37] Chr1:1q22	uncertain significance
NM_007221.4(PMF1):c.162-6680C>T	single nucleotide variant	not specified [RCV004112037]	Chr1:156225640 [GRCh38] Chr1:156195431 [GRCh37] Chr1:1q22	uncertain significance
NM_199173.6(BGLAP):c.262G>A (p.Gly88Ser)	single nucleotide variant	not specified [RCV004151393]	Chr1:156243121 [GRCh38] Chr1:156212912 [GRCh37] Chr1:1q22	uncertain significance
NM_007221.4(PMF1):c.162-6707A>G	single nucleotide variant	not specified [RCV004223931]	Chr1:156225613 [GRCh38] Chr1:156195404 [GRCh37] Chr1:1q22	uncertain significance
NM_001199661.1(PMF1-BGLAP):c.142A>C (p.Lys48Gln)	single nucleotide variant	not specified [RCV004208504]	Chr1:156213157 [GRCh38] Chr1:156182948 [GRCh37] Chr1:1q22	uncertain significance
NM_199173.6(BGLAP):c.280C>T (p.Arg94Trp)	single nucleotide variant	not specified [RCV004069493]	Chr1:156243139 [GRCh38] Chr1:156212930 [GRCh37] Chr1:1q22	uncertain significance
NM_001199661.1(PMF1-BGLAP):c.446G>C (p.Gly149Ala)	single nucleotide variant	not specified [RCV004275987]	Chr1:156236426 [GRCh38] Chr1:156206217 [GRCh37] Chr1:1q22	uncertain significance
NM_007221.4(PMF1):c.379G>A (p.Gly127Arg)	single nucleotide variant	not specified [RCV004273220]	Chr1:156236298 [GRCh38] Chr1:156206089 [GRCh37] Chr1:1q22	uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	copy number gain	Chromosome 1q21.1 duplication syndrome [RCV003329522]	Chr1:142535935..157648813 [GRCh37] Chr1:1q12-23.1	pathogenic
NM_199173.6(BGLAP):c.261C>G (p.Ile87Met)	single nucleotide variant	not specified [RCV004361597]	Chr1:156243120 [GRCh38] Chr1:156212911 [GRCh37] Chr1:1q22	uncertain significance
NM_007221.4(PMF1):c.162-6741G>A	single nucleotide variant	not specified [RCV004361624]	Chr1:156225579 [GRCh38] Chr1:156195370 [GRCh37] Chr1:1q22	uncertain significance
GRCh37/hg19 1q22(chr1:155864518-156213257)x3	copy number gain	not provided [RCV003484043]	Chr1:155864518..156213257 [GRCh37] Chr1:1q22	uncertain significance
NM_199173.6(BGLAP):c.51C>T (p.Ile17=)	single nucleotide variant	not provided [RCV003409144]	Chr1:156242282 [GRCh38] Chr1:156212073 [GRCh37] Chr1:1q22	likely benign
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	copy number gain	not specified [RCV003986717]	Chr1:144368497..158992086 [GRCh37] Chr1:1q21.1-23.1	pathogenic
GRCh37/hg19 1q22(chr1:155902621-156207096)x3	copy number gain	not specified [RCV003986329]	Chr1:155902621..156207096 [GRCh37] Chr1:1q22	uncertain significance
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	copy number loss	not specified [RCV003986928]	Chr1:154302443..156868186 [GRCh37] Chr1:1q21.3-23.1	pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	copy number gain	not specified [RCV003987261]	Chr1:146577511..157155587 [GRCh37] Chr1:1q21.1-23.1	pathogenic
NM_001199661.1(PMF1-BGLAP):c.595C>G (p.Pro199Ala)	single nucleotide variant	not specified [RCV004509597]	Chr1:156242814 [GRCh38] Chr1:156212605 [GRCh37] Chr1:1q22	uncertain significance
NM_199173.6(BGLAP):c.178C>T (p.Pro60Ser)	single nucleotide variant	not specified [RCV004429077]	Chr1:156243037 [GRCh38] Chr1:156212828 [GRCh37] Chr1:1q22	uncertain significance
GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	copy number gain	not provided [RCV004577444]	Chr1:155709113..159191078 [GRCh37] Chr1:1q22-23.2	likely pathogenic
NM_199173.6(BGLAP):c.79G>A (p.Gly27Ser)	single nucleotide variant	not specified [RCV004429079]	Chr1:156242567 [GRCh38] Chr1:156212358 [GRCh37] Chr1:1q22	uncertain significance
NM_199173.6(BGLAP):c.68C>T (p.Ala23Val)	single nucleotide variant	not specified [RCV004429078]	Chr1:156242556 [GRCh38] Chr1:156212347 [GRCh37] Chr1:1q22	uncertain significance
NM_007221.4(PMF1):c.571C>T (p.His191Tyr)	single nucleotide variant	not specified [RCV004651510]	Chr1:156239554 [GRCh38] Chr1:156209345 [GRCh37] Chr1:1q22	uncertain significance
NM_007221.4(PMF1):c.162-6677C>T	single nucleotide variant	not specified [RCV004662345]	Chr1:156225643 [GRCh38] Chr1:156195434 [GRCh37] Chr1:1q22	uncertain significance
NM_007221.4(PMF1):c.610C>T (p.Pro204Ser)	single nucleotide variant	not specified [RCV004662344]	Chr1:156239593 [GRCh38] Chr1:156209384 [GRCh37] Chr1:1q22	uncertain significance
NM_007221.4(PMF1):c.378C>T (p.Ser126=)	single nucleotide variant	not provided [RCV004811765]	Chr1:156236297 [GRCh38] Chr1:156206088 [GRCh37] Chr1:1q22	likely benign
NM_007221.4(PMF1):c.397C>G (p.Leu133Val)	single nucleotide variant	not specified [RCV004844971]	Chr1:156236316 [GRCh38] Chr1:156206107 [GRCh37] Chr1:1q22	uncertain significance
NM_001199661.1(PMF1-BGLAP):c.548G>C (p.Cys183Ser)	single nucleotide variant	not specified [RCV004844972]	Chr1:156242767 [GRCh38] Chr1:156212558 [GRCh37] Chr1:1q22	uncertain significance
NM_001199661.1(PMF1-BGLAP):c.265C>T (p.Arg89Trp)	single nucleotide variant	not specified [RCV004844974]	Chr1:156232423 [GRCh38] Chr1:156202214 [GRCh37] Chr1:1q22	uncertain significance
NM_001199661.1(PMF1-BGLAP):c.17G>T (p.Ser6Ile)	single nucleotide variant	not specified [RCV004844975]	Chr1:156213032 [GRCh38] Chr1:156182823 [GRCh37] Chr1:1q22	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	855
Count of miRNA genes:	361
Interacting mature miRNAs:	385
Transcripts:	ENST00000320139, ENST00000368276, ENST00000490491
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597164826	GWAS1260900_H	factor VIII measurement, Ischemic stroke QTL GWAS1260900 (human)		3e-12	factor VIII measurement, Ischemic stroke		1	156232382	156232383	Human
596979606	GWAS1099125_H	small vessel stroke QTL GWAS1099125 (human)		0.000001	small vessel stroke		1	156232382	156232383	Human
407393870	GWAS1042846_H	Ischemic stroke, plasminogen activator inhibitor 1 measurement QTL GWAS1042846 (human)		6e-11	Ischemic stroke, plasminogen activator inhibitor 1 measurement		1	156232382	156232383	Human
407041348	GWAS690324_H	mosaic loss of chromosome Y measurement QTL GWAS690324 (human)		2e-19	mosaic loss of chromosome Y measurement		1	156232849	156232850	Human
596975901	GWAS1095420_H	Ischemic stroke QTL GWAS1095420 (human)		4e-11	Ischemic stroke		1	156232382	156232383	Human
597318672	GWAS1414746_H	serum metabolite measurement QTL GWAS1414746 (human)		0.0000004	serum metabolite measurement		1	156225691	156225692	Human
597401744	GWAS1497818_H	white matter hyperintensity measurement QTL GWAS1497818 (human)		2e-08	white matter hyperintensity measurement		1	156227589	156227590	Human
597427863	GWAS1523937_H	renal carcinoma QTL GWAS1523937 (human)		5e-13	renal carcinoma		1	156236330	156236331	Human
597305623	GWAS1401697_H	neutrophil count QTL GWAS1401697 (human)		5e-70	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	1	156228575	156228576	Human
596960282	GWAS1079801_H	glomerular filtration rate QTL GWAS1079801 (human)		1e-23	glomerular filtration rate		1	156232382	156232383	Human
597368073	GWAS1464147_H	non-lobar intracerebral hemorrhage QTL GWAS1464147 (human)		3e-08	non-lobar intracerebral hemorrhage		1	156230654	156230655	Human
596960391	GWAS1079910_H	glomerular filtration rate QTL GWAS1079910 (human)		5e-11	glomerular filtration rate		1	156232382	156232383	Human
597123203	GWAS1219277_H	clear cell renal carcinoma QTL GWAS1219277 (human)		2e-19	clear cell renal carcinoma		1	156233018	156233019	Human
597286412	GWAS1382486_H	Ischemic stroke QTL GWAS1382486 (human)		5e-09	Ischemic stroke		1	156232382	156232383	Human
407013588	GWAS662564_H	stroke QTL GWAS662564 (human)		3e-14	stroke		1	156232382	156232383	Human
597267855	GWAS1363929_H	small vessel stroke QTL GWAS1363929 (human)		3e-10	small vessel stroke		1	156233018	156233019	Human
407392360	GWAS1041336_H	Ischemic stroke, von Willebrand factor measurement QTL GWAS1041336 (human)		1e-10	Ischemic stroke, von Willebrand factor measurement		1	156232382	156232383	Human
596965556	GWAS1085075_H	renal carcinoma QTL GWAS1085075 (human)		5e-13	renal carcinoma		1	156236330	156236331	Human
407392361	GWAS1041337_H	factor XI measurement, Ischemic stroke QTL GWAS1041337 (human)		7e-11	Ischemic stroke, tissue plasminogen activator measurement		1	156232382	156232383	Human
596980279	GWAS1099798_H	memory performance QTL GWAS1099798 (human)		0.000002	memory performance		1	156222560	156222561	Human
597286075	GWAS1382149_H	stroke QTL GWAS1382149 (human)		3e-14	stroke		1	156232382	156232383	Human
407392363	GWAS1041339_H	Ischemic stroke, fibrinogen measurement QTL GWAS1041339 (human)		5e-10	Ischemic stroke, fibrinogen measurement		1	156232382	156232383	Human
407065445	GWAS714421_H	Ischemic stroke QTL GWAS714421 (human)		4e-11	Ischemic stroke		1	156232382	156232383	Human
597041470	GWAS1137544_H	appendicular lean mass QTL GWAS1137544 (human)		2e-08	appendicular lean mass		1	156226143	156226144	Human
597229748	GWAS1325822_H	age at menopause QTL GWAS1325822 (human)		7e-12	age at menopause		1	156232849	156232850	Human
597412000	GWAS1508074_H	C-reactive protein measurement QTL GWAS1508074 (human)		2e-11	C-reactive protein measurement	blood C-reactive protein level (CMO:0003160)	1	156236330	156236331	Human
597369765	GWAS1465839_H	mosaic loss of chromosome Y measurement QTL GWAS1465839 (human)		2e-36	mosaic loss of chromosome Y measurement		1	156234862	156234863	Human
406894718	GWAS543694_H	C-reactive protein measurement QTL GWAS543694 (human)		3e-09	C-reactive protein measurement		1	156236330	156236331	Human
597533091	GWAS1629165_H	breast cancer, COVID-19 QTL GWAS1629165 (human)		3e-08	breast cancer, COVID-19		1	156236330	156236331	Human
407341447	GWAS990423_H	renal carcinoma QTL GWAS990423 (human)		5e-13	renal carcinoma		1	156236330	156236331	Human
597357272	GWAS1453346_H	intracerebral hemorrhage QTL GWAS1453346 (human)		2e-10	intracerebral hemorrhage		1	156227589	156227590	Human
596968407	GWAS1087926_H	breast cancer, COVID-19 QTL GWAS1087926 (human)		3e-08	breast cancer, COVID-19		1	156236330	156236331	Human
596979921	GWAS1099440_H	Ischemic stroke, factor VII measurement QTL GWAS1099440 (human)		8e-11	Ischemic stroke, factor VII measurement		1	156232382	156232383	Human
596978768	GWAS1098287_H	stroke QTL GWAS1098287 (human)		3e-14	stroke		1	156232382	156232383	Human
596959825	GWAS1079344_H	glomerular filtration rate QTL GWAS1079344 (human)		9e-24	glomerular filtration rate		1	156232382	156232383	Human
597342943	GWAS1439017_H	Parkinson disease QTL GWAS1439017 (human)		8e-10	Parkinson disease		1	156242034	156242035	Human
597289055	GWAS1385129_H	stroke QTL GWAS1385129 (human)		2e-12	stroke		1	156232382	156232383	Human
596966354	GWAS1085873_H	cystatin C measurement QTL GWAS1085873 (human)		4e-10	cystatin C measurement		1	156236330	156236331	Human
597506007	GWAS1602081_H	C-reactive protein measurement QTL GWAS1602081 (human)		3e-09	C-reactive protein measurement	blood C-reactive protein level (CMO:0003160)	1	156236330	156236331	Human
597438032	GWAS1534106_H	trait in response to paclitaxel QTL GWAS1534106 (human)		0.000006	trait in response to paclitaxel		1	156219495	156219496	Human
596975578	GWAS1095097_H	stroke QTL GWAS1095097 (human)		2e-12	stroke		1	156232382	156232383	Human
1357381	BW57_H	Body weight QTL 57 (human)	1	0.0001	Body weight	fat free mass after exercise training	1	140630236	166630236	Human
597131969	GWAS1228043_H	memory performance QTL GWAS1228043 (human)		0.000002	memory performance		1	156222560	156222561	Human
596979789	GWAS1099308_H	factor VIII measurement, Ischemic stroke QTL GWAS1099308 (human)		3e-12	factor VIII measurement, Ischemic stroke		1	156232382	156232383	Human
596979791	GWAS1099310_H	Ischemic stroke, fibrinogen measurement QTL GWAS1099310 (human)		5e-10	Ischemic stroke, fibrinogen measurement		1	156232382	156232383	Human
597365057	GWAS1461131_H	mosaic loss of chromosome Y measurement QTL GWAS1461131 (human)		3e-88	mosaic loss of chromosome Y measurement		1	156234862	156234863	Human
407013657	GWAS662633_H	stroke QTL GWAS662633 (human)		2e-12	stroke		1	156232382	156232383	Human
596979790	GWAS1099309_H	Ischemic stroke, von Willebrand factor measurement QTL GWAS1099309 (human)		1e-10	Ischemic stroke, von Willebrand factor measurement		1	156232382	156232383	Human
596967240	GWAS1086759_H	myeloproliferative disorder QTL GWAS1086759 (human)		3e-24	myeloproliferative disorder		1	156232382	156232383	Human
596966344	GWAS1085863_H	C-reactive protein measurement QTL GWAS1085863 (human)		3e-09	C-reactive protein measurement		1	156236330	156236331	Human
407390486	GWAS1039462_H	Ischemic stroke, factor VII measurement QTL GWAS1039462 (human)		8e-11	Ischemic stroke, factor VII measurement		1	156232382	156232383	Human
596966730	GWAS1086249_H	serum urea measurement QTL GWAS1086249 (human)		3e-14	serum urea measurement		1	156236330	156236331	Human
406891296	GWAS540272_H	C-reactive protein measurement QTL GWAS540272 (human)		2e-11	C-reactive protein measurement		1	156236330	156236331	Human
597162738	GWAS1258812_H	factor XI measurement, Ischemic stroke QTL GWAS1258812 (human)		7e-11	Ischemic stroke, tissue plasminogen activator measurement		1	156232382	156232383	Human
406892325	GWAS541301_H	cystatin C measurement QTL GWAS541301 (human)		4e-10	cystatin C measurement		1	156236330	156236331	Human
407392046	GWAS1041022_H	factor VIII measurement, Ischemic stroke QTL GWAS1041022 (human)		3e-12	factor VIII measurement, Ischemic stroke		1	156232382	156232383	Human
406973863	GWAS622839_H	breast cancer, COVID-19 QTL GWAS622839 (human)		3e-08	breast cancer, COVID-19		1	156236330	156236331	Human
596977522	GWAS1097041_H	Ischemic stroke QTL GWAS1097041 (human)		5e-09	Ischemic stroke		1	156232382	156232383	Human
597164659	GWAS1260733_H	Ischemic stroke, plasminogen activator inhibitor 1 measurement QTL GWAS1260733 (human)		6e-11	Ischemic stroke, plasminogen activator inhibitor 1 measurement	blood plasminogen activator inhibitor 1 level (CMO:0003034)	1	156232382	156232383	Human
596979577	GWAS1099096_H	Ischemic stroke, tissue plasminogen activator measurement QTL GWAS1099096 (human)		7e-11	factor XI measurement, Ischemic stroke		1	156232382	156232383	Human
406892332	GWAS541308_H	serum urea measurement QTL GWAS541308 (human)		3e-14	serum urea measurement		1	156236330	156236331	Human
597452785	GWAS1548859_H	cystatin C measurement QTL GWAS1548859 (human)		4e-10	cystatin C measurement	blood cystatin C level (CMO:0002777)	1	156236330	156236331	Human
596979578	GWAS1099097_H	Ischemic stroke, plasminogen activator inhibitor 1 measurement QTL GWAS1099097 (human)		6e-11	Ischemic stroke, plasminogen activator inhibitor 1 measurement		1	156232382	156232383	Human
407359799	GWAS1008775_H	myeloproliferative disorder QTL GWAS1008775 (human)		3e-24	myeloproliferative disorder		1	156232382	156232383	Human
597288427	GWAS1384501_H	Ischemic stroke QTL GWAS1384501 (human)		4e-11	Ischemic stroke		1	156232382	156232383	Human
407061814	GWAS710790_H	Ischemic stroke QTL GWAS710790 (human)		5e-09	Ischemic stroke		1	156232382	156232383	Human
407063350	GWAS712326_H	small vessel stroke QTL GWAS712326 (human)		0.000001	small vessel stroke		1	156232382	156232383	Human
597163617	GWAS1259691_H	Ischemic stroke, factor VII measurement QTL GWAS1259691 (human)		8e-11	Ischemic stroke, factor VII measurement		1	156232382	156232383	Human
597347558	GWAS1443632_H	myeloproliferative disorder QTL GWAS1443632 (human)		3e-24	myeloproliferative disorder		1	156232382	156232383	Human
597285607	GWAS1381681_H	small vessel stroke QTL GWAS1381681 (human)		0.000001	small vessel stroke		1	156232382	156232383	Human

PMC351321P3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	156,212,359 - 156,212,931	UniSTS	GRCh37
Build 36	1	154,478,983 - 154,479,555	RGD	NCBI36
Celera	1	129,285,341 - 129,285,913	RGD
Cytogenetic Map	1	q	UniSTS
Cytogenetic Map	1	q22	UniSTS
HuRef	1	127,573,458 - 127,574,030	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2408	2787	2234	4946	1687	2312	6	585	1763	426	2269	7013	6261	53	3707	1	832	1708	1617	174	1


RefSeq Transcripts	NM_001199661	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001199662	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001199663	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001199664	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL135927	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033656	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD049192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD388852	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FY213424	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000320139 ⟹ ENSP00000324909

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,213,009 - 156,243,321 (+)	Ensembl

Ensembl Acc Id:

ENST00000368276 ⟹ ENSP00000357259

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,213,007 - 156,243,263 (+)	Ensembl

Ensembl Acc Id:

ENST00000490491 ⟹ ENSP00000475561

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,212,982 - 156,243,332 (+)	Ensembl

Ensembl Acc Id:

ENST00000567140 ⟹ ENSP00000458021

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,213,009 - 156,243,214 (+)	Ensembl

RefSeq Acc Id:

NM_001199661 ⟹ NP_001186590

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	156,212,988 - 156,243,332 (+)	NCBI
GRCh37	1	156,182,779 - 156,213,123 (+)	ENTREZGENE
HuRef	1	127,544,511 - 127,574,222 (+)	ENTREZGENE
CHM1_1	1	157,578,747 - 157,609,096 (+)	NCBI
T2T-CHM13v2.0	1	155,351,442 - 155,381,789 (+)	NCBI

Sequence:

show sequence

CAGTTAGATTTGGAGGTTCAACTTCAACATGGCCGAAGCAAGTAGCGCCAATCTAGGCAGCGGCTGTGAGGAAAAAAGGCATGAGGGGTCGTCTTCGGAATCTGTGCCACCCGGCACTACCATTTCGA
GGGTGAAGCTCCTCGACACCATGGTGGACACTTTTCTTCAGAAGCTGGTCGCCGCCGGCAGCTACCAGAGATTCACTGACTGCTATAAGTGCTTCTACCAGTTGCAGCCTGCGATGACACAGCAAATC
TATGACAAGTTTATAGCTCAGTTGCAGACATCTATCCGGGAGGAAATCTCTGACATCAAAGAGGAGGGGAACCTAGAAGCTGTCTTGAATGCCTTGGATAAAATTGTGGAAGAAGGCAAAGTCCGCAA
AGAGCCAGCCTGCAACGGGACACCCTGCGGCGCCATGTGCAGAAACAGGAGGCCGAGAACCAGCAGCTGGCAGATGCCGTCCTGGCAGGGCGGAGGCAGGTGGAGGAGCTGCAGCTACAGGTCCAGGC
CCAGCAGCAGGCCTGGCAGGTGCGAAGCCCAGCGGTGCAGAGTCCAGCAAAGGTGCAGCCTTTGTGTCCAAGCAGGAGGGCAGCGAGGTAGTGAAGAGACCCAGGCGCTACCTGTATCAATGGCTGGG
AGCCCCAGTCCCCTACCCGGATCCCCTGGAGCCCAGGAGGGAGGTGTGTGAGCTCAATCCGGACTGTGACGAGTTGGCTGACCACATCGGCTTTCAGGAGGCCTATCGGCGCTTCTACGGCCCGGTCT
AGGGTGTCGCTCTGCTGGCCTGGCCGGCAACCCCAGTTCTGCTCCTCTCCAGGCACCCTTCTTTCCTCTTCCCCTTGCCCTTGCCCTGACCTCCCAGCCCTATGGATGTGGGGTCCCCATCATCCCAG
CTGCTCCCAAATAAACTCCAGAAGAGGAATCTGTGGGCCTGTGA

hide sequence

RefSeq Acc Id:

NM_001199662 ⟹ NP_001186591

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	156,212,988 - 156,243,332 (+)	NCBI
GRCh37	1	156,182,779 - 156,213,123 (+)	ENTREZGENE
HuRef	1	127,544,511 - 127,574,222 (+)	ENTREZGENE
CHM1_1	1	157,578,747 - 157,609,096 (+)	NCBI
T2T-CHM13v2.0	1	155,351,442 - 155,381,789 (+)	NCBI

Sequence:

show sequence

CAGTTAGATTTGGAGGTTCAACTTCAACATGGCCGAAGCAAGTAGCGCCAATCTAGGCAGCGGC
TGTGAGGAAAAAAGGCATGAGGGGTCGTCTTCGGAATCTGTGCCACCCGGCACTACCATTTCGAGGGTGAAGCTCCTCGACACCATGGTGGACACTTTTCTTCAGAAGCTGGTCGCCGCCGGCAGCTA
CCAGAGATTCACTGACTGCTATAAGTGCTTCTACCAGTTGCAGCCTGCGATGACACAGCAAATCTATGACAAGTTTATAGCTCAGTTGCAGACATCTATCCGGGAGGAAATCTCTGACATCAAAGAGG
AGGGGAACCTAGAAGCTGTCTTGAATGCCTTGGATAAAATTGTGGAAGAAGGCAAAGTCCGCAAAGAGCCAGCCTGGCGCCCCAGCGGGATCCCAGAGAAGGATCTGCACAGTGTTATGGCACCCTAC
TTCCTGCAGCAACGGGACACCCTGCGGCGCCATGTGCAGAAACAGGAGGCCGAGAACCAGCAGCTGGCAGATGCCGTCCTGGCAGGGCGGAGGCAGGTGGAGGAGCTGCAGCTACAGGTCCAGGCCCA
GCAGCAGGCCTGGCAGGTGCGAAGCCCAGCGGTGCAGAGTCCAGCAAAGGTGCAGCCTTTGTGTCCAAGCAGGAGGGCAGCGAGGTAGTGAAGAGACCCAGGCGCTACCTGTATCAATGGCTGGGAGC
CCCAGTCCCCTACCCGGATCCCCTGGAGCCCAGGAGGGAGGTGTGTGAGCTCAATCCGGACTGTGACGAGTTGGCTGACCACATCGGCTTTCAGGAGGCCTATCGGCGCTTCTACGGCCCGGTCTAGG
GTGTCGCTCTGCTGGCCTGGCCGGCAACCCCAGTTCTGCTCCTCTCCAGGCACCCTTCTTTCCTCTTCCCCTTGCCCTTGCCCTGACCTCCCAGCCCTATGGATGTGGGGTCCCCATCATCCCAGCTG
CTCCCAAATAAACTCCAGAAGAGGAATCTGTGGGCCTGTGA

hide sequence

RefSeq Acc Id:

NM_001199663 ⟹ NP_001186592

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	156,212,988 - 156,243,332 (+)	NCBI
GRCh37	1	156,182,779 - 156,213,123 (+)	ENTREZGENE
HuRef	1	127,544,511 - 127,574,222 (+)	ENTREZGENE
CHM1_1	1	157,578,747 - 157,609,096 (+)	NCBI
T2T-CHM13v2.0	1	155,351,442 - 155,381,789 (+)	NCBI

Sequence:

show sequence

CAGTTAGATTTGGAGGTTCAACTTCAACATGGCCGAAGCAAGTAGCGCCAATCTAGGCAGCGGC
TGTGAGGAAAAAAGGCATGAGGGGTCGTCTTCGGAATCTGTGCCACCCGGCACTACCATTTCGAGGGTGAAGCTCCTCGACACCATGGTGGACACTTTTCTTCAGAAGCTGGTCGCCGCCGGCAGCTA
CCAGAGATTCACTGACTGCTATAAGTGCTTCTACCAGTTGCAGCCTGCGATGACACAGCAAATCTATGACAAGTTTATAGCTCAGTTGCAGACATCTATCCGGGAGGAAATCTCTGACATCAAAGAGG
AGGGGAACCTAGAAGCTGTCTTGAATGCCTTGGATAAAATTGTGGAAGAAGGCAAAGTCCGCAAAGAGCCAGCCTGGTGCGAAGCCCAGCGGTGCAGAGTCCAGCAAAGGTGCAGCCTTTGTGTCCAA
GCAGGAGGGCAGCGAGGTAGTGAAGAGACCCAGGCGCTACCTGTATCAATGGCTGGGAGCCCCAGTCCCCTACCCGGATCCCCTGGAGCCCAGGAGGGAGGTGTGTGAGCTCAATCCGGACTGTGACG
AGTTGGCTGACCACATCGGCTTTCAGGAGGCCTATCGGCGCTTCTACGGCCCGGTCTAGGGTGTCGCTCTGCTGGCCTGGCCGGCAACCCCAGTTCTGCTCCTCTCCAGGCACCCTTCTTTCCTCTTC
CCCTTGCCCTTGCCCTGACCTCCCAGCCCTATGGATGTGGGGTCCCCATCATCCCAGCTGCTCCCAAATAAACTCCAGAAGAGGAATCTGTGGGCCTGTGA

hide sequence

RefSeq Acc Id:

NM_001199664 ⟹ NP_001186593

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	156,212,988 - 156,243,332 (+)	NCBI
GRCh37	1	156,182,779 - 156,213,123 (+)	ENTREZGENE
HuRef	1	127,544,511 - 127,574,222 (+)	ENTREZGENE
CHM1_1	1	157,578,747 - 157,609,096 (+)	NCBI
T2T-CHM13v2.0	1	155,351,442 - 155,381,789 (+)	NCBI

Sequence:

show sequence

CAGTTAGATTTGGAGGTTCAACTTCAACATGGCCGAAGCAAGTAGCGCCAATCTAGGCAGCGGCTGTGAGGAAAAAAGGCATGAGGGGTCGTCTTCGGAATCTGTGCCACCCGGCACTACCATTTCGA
GGGTGAAGCTCCTCGACACCATGGTGGACACTTTTCTTCAGAAGCTGGTCGCCGCCGGCAGGCGCCCCAGCGGGATCCCAGAGAAGGATCTGCACAGTGTTATGGCACCCTACTTCCTGCAGCAACGG
GACACCCTGCGGCGCCATGTGCAGAAACAGGAGGCCGAGAACCAGCAGCTGGCAGATGCCGTCCTGGCAGGGCGGAGGCAGGTGGAGGAGCTGCAGCTACAGGTCCAGGCCCAGCAGCAGGCCTGGCA
GGTGCGAAGCCCAGCGGTGCAGAGTCCAGCAAAGGTGCAGCCTTTGTGTCCAAGCAGGAGGGCAGCGAGGTAGTGAAGAGACCCAGGCGCTACCTGTATCAATGGCTGGGAGCCCCAGTCCCCTACCC
GGATCCCCTGGAGCCCAGGAGGGAGGTGTGTGAGCTCAATCCGGACTGTGACGAGTTGGCTGACCACATCGGCTTTCAGGAGGCCTATCGGCGCTTCTACGGCCCGGTCTAGGGTGTCGCTCTGCTGG
CCTGGCCGGCAACCCCAGTTCTGCTCCTCTCCAGGCACCCTTCTTTCCTCTTCCCCTTGCCCTTGCCCTGACCTCCCAGCCCTATGGATGTGGGGTCCCCATCATCCCAGCTGCTCCCAAATAAACTC
CAGAAGAGGAATCTGTGGGCCTGTGA

hide sequence


Protein RefSeqs	NP_001186590	(Get FASTA)	NCBI Sequence Viewer
	NP_001186591	(Get FASTA)	NCBI Sequence Viewer
	NP_001186592	(Get FASTA)	NCBI Sequence Viewer
	NP_001186593	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	EAW52985	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000324909
	ENSP00000357256.4
	ENSP00000357259
	ENSP00000357260.3
	ENSP00000357262.3
	ENSP00000458021
	ENSP00000475561

RefSeq Acc Id:	NP_001186591 ⟸ NM_001199662
- Peptide Label:	isoform 2
- UniProtKB:	U3KQ54 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAEASSANLGSGCEEKRHEGSSSESVPPGTTISRVKLLDTMVDTFLQKLVAAGSYQRFTDCYKCFYQLQPAMTQQIYDKFIAQLQTSIREEISDIKEEGNLEAVLNALDKIVEEGKVRKEPAWRPSGI PEKDLHSVMAPYFLQQRDTLRRHVQKQEAENQQLADAVLAGRRQVEELQLQVQAQQQAWQVRSPAVQSPAKVQPLCPSRRAAR hide sequence

RefSeq Acc Id:	NP_001186590 ⟸ NM_001199661
- Peptide Label:	isoform 1
- UniProtKB:	Q6P1K2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAEASSANLGSGCEEKRHEGSSSESVPPGTTISRVKLLDTMVDTFLQKLVAAGSYQRFTDCYKCFYQLQPAMTQQIYDKFIAQLQTSIREEISDIKEEGNLEAVLNALDKIVEEGKVRKEPACNGTPC GAMCRNRRPRTSSWQMPSWQGGGRWRSCSYRSRPSSRPGRCEAQRCRVQQRCSLCVQAGGQRGSEETQALPVSMAGSPSPLPGSPGAQEGGV hide sequence

RefSeq Acc Id:	NP_001186592 ⟸ NM_001199663
- Peptide Label:	isoform 3
- UniProtKB:	Q6P1K2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAEASSANLGSGCEEKRHEGSSSESVPPGTTISRVKLLDTMVDTFLQKLVAAGSYQRFTDCYKCFYQLQPAMTQQIYDKFIAQLQTSIREEISDIKEEGNLEAVLNALDKIVEEGKVRKEPAWCEAQR CRVQQRCSLCVQAGGQRGSEETQALPVSMAGSPSPLPGSPGAQEGGV hide sequence

RefSeq Acc Id:	NP_001186593 ⟸ NM_001199664
- Peptide Label:	isoform 4
- UniProtKB:	A0A087WT04 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAEASSANLGSGCEEKRHEGSSSESVPPGTTISRVKLLDTMVDTFLQKLVAAGRRPSGIPEKDL HSVMAPYFLQQRDTLRRHVQKQEAENQQLADAVLAGRRQVEELQLQVQAQQQAWQVRSPAVQSPAKVQPLCPSRRAAR hide sequence

Ensembl Acc Id:

ENSP00000475561 ⟸ ENST00000490491

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6P1K2-F1-model_v2	AlphaFold	Q6P1K2	1-205	view protein structure

Database	Acc Id	Source(s)
COSMIC	PMF1-BGLAP	COSMIC
Ensembl Genes	ENSG00000160783	UniProtKB/Swiss-Prot
	ENSG00000260238	Ensembl, ENTREZGENE
Ensembl Transcript	ENST00000320139	ENTREZGENE
	ENST00000368273.8	UniProtKB/Swiss-Prot
	ENST00000368276	ENTREZGENE
	ENST00000368277.3	UniProtKB/Swiss-Prot
	ENST00000368279.7	UniProtKB/Swiss-Prot
	ENST00000490491	ENTREZGENE
	ENST00000567140	ENTREZGENE
GTEx	ENSG00000160783	GTEx
	ENSG00000260238	GTEx
HGNC ID	HGNC:42953	ENTREZGENE
Human Proteome Map	PMF1-BGLAP	Human Proteome Map
InterPro	PMF1/Nnf1	UniProtKB/Swiss-Prot
KEGG Report	hsa:100527963	UniProtKB/Swiss-Prot
	hsa:11243	UniProtKB/Swiss-Prot
NCBI Gene	100527963	ENTREZGENE
PANTHER	POLYAMINE-MODULATED FACTOR 1	UniProtKB/Swiss-Prot
	PTHR15459	UniProtKB/Swiss-Prot
Pfam	Nnf1	UniProtKB/Swiss-Prot
UniProt	A0A087WT04	ENTREZGENE, UniProtKB/TrEMBL
	PMF1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	U3KQ54	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	A8K0C5	UniProtKB/Swiss-Prot
	Q5TCJ8	UniProtKB/Swiss-Prot
	Q5TCJ9	UniProtKB/Swiss-Prot
	Q5TCK0	UniProtKB/Swiss-Prot
	Q5TCK1	UniProtKB/Swiss-Prot
	Q5TCK3	UniProtKB/Swiss-Prot
	Q69YZ9	UniProtKB/Swiss-Prot
	Q6PHR4	UniProtKB/Swiss-Prot
	Q6ZVE6	UniProtKB/Swiss-Prot
	Q86VJ6	UniProtKB/Swiss-Prot
	Q8N4T6	UniProtKB/Swiss-Prot
	Q9UBQ3	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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