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Gene: PATL1 (PAT1 homolog 1, processing body mRNA decay factor) Homo sapiens

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Symbol:

PATL1

Name:

PAT1 homolog 1, processing body mRNA decay factor

RGD ID:

1606423

HGNC Page

HGNC:26721

Description:

Enables poly(G) binding activity and poly(U) RNA binding activity. Involved in P-body assembly and deadenylation-dependent decapping of nuclear-transcribed mRNA. Located in CCR4-NOT complex; P-body; and cytosol.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ36874; hPat1b; MGC125671; MGC125672; PAT1-like protein 1; Pat1b; protein PAT1 homolog 1; protein PAT1 homolog b

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

LOC100129352 LOC390933

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	11	59,636,716 - 59,669,037 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	59,636,716 - 59,669,037 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	59,404,189 - 59,436,510 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	59,160,770 - 59,182,994 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	56,766,936 - 56,799,259 (-)	NCBI		Celera
Cytogenetic Map	11	q12.1	NCBI
HuRef	11	55,751,480 - 55,783,808 (-)	NCBI		HuRef
CHM1_1	11	59,270,207 - 59,302,529 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	59,587,649 - 59,620,355 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

intellectual disability (IAGP)

leukocyte adhesion deficiency 3 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-demecolcine (EXP)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-hydroxypropanoic acid (EXP)

2-methylcholine (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP,ISO)

aflatoxin B1 (ISO)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

carbamazepine (EXP)

chlorpyrifos (ISO)

choline (ISO)

crocidolite asbestos (ISO)

cyclosporin A (EXP)

dexamethasone (EXP)

Dibutyl phosphate (EXP)

dicrotophos (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

enzyme inhibitor (EXP)

fenthion (ISO)

fenvalerate (ISO)

folic acid (ISO)

FR900359 (EXP)

gentamycin (ISO)

indometacin (EXP)

ivermectin (EXP)

L-methionine (ISO)

methidathion (ISO)

nickel atom (EXP)

paracetamol (EXP,ISO)

pirinixic acid (EXP)

propiconazole (ISO)

rac-lactic acid (EXP)

resveratrol (EXP)

SB 431542 (EXP)

sunitinib (EXP)

tamoxifen (ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

torcetrapib (EXP)

triphenyl phosphate (EXP)

troglitazone (ISO)

valproic acid (EXP)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

deadenylation-dependent decapping of nuclear-transcribed mRNA (IBA,IDA,IEA)

P-body assembly (IBA,IDA)

Cellular Component

CCR4-NOT complex (IDA)

cytoplasm (IEA)

cytoplasmic ribonucleoprotein granule (IDA)

cytosol (IDA,TAS)

nuclear speck (IEA)

nucleus (IEA)

P-body (IBA,IDA,IEA)

PML body (IEA)

Molecular Function

poly(G) binding (IDA)

poly(U) RNA binding (IDA)

protein binding (IPI)

RNA binding (HDA,IBA,IDA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

microRNA pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Intellectual disability (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	The role of disordered protein regions in the assembly of decapping complexes and RNP granules.	Jonas S and Izaurralde E, Genes Dev. 2013 Dec 15;27(24):2628-41. doi: 10.1101/gad.227843.113.
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11076863	PMID:11230166	PMID:12477932	PMID:14702039	PMID:15302935	PMID:15489336	PMID:16381901	PMID:17936923	PMID:18029348	PMID:19322201	PMID:20020773	PMID:20360068
PMID:20543818	PMID:20584987	PMID:20826699	PMID:20852261	PMID:21244100	PMID:21832049	PMID:21873635	PMID:22090346	PMID:22437941	PMID:22658674	PMID:22681889	PMID:22939629
PMID:23535175	PMID:23851565	PMID:24550385	PMID:24778252	PMID:25416956	PMID:25921289	PMID:26184334	PMID:26186194	PMID:26344197	PMID:26496610	PMID:26673895	PMID:26972000
PMID:27025967	PMID:27247266	PMID:27684187	PMID:28431233	PMID:28514442	PMID:28515276	PMID:28611215	PMID:28718761	PMID:28768202	PMID:29395067	PMID:29509190	PMID:29510985
PMID:30021884	PMID:30209976	PMID:30463901	PMID:31091453	PMID:31340047	PMID:31422817	PMID:31439631	PMID:31519766	PMID:32296183	PMID:32391793	PMID:32694731	PMID:33417871
PMID:33742100	PMID:33961781	PMID:34079125	PMID:34133714	PMID:34597346	PMID:34672954	PMID:35140242	PMID:35256949	PMID:35271311	PMID:35439318	PMID:35509820	PMID:36215168
PMID:36232890	PMID:36244648	PMID:36880596	PMID:37314180	PMID:37689310	PMID:37794589	PMID:37827155	PMID:37848033	PMID:38777146

Genomics

Comparative Map Data

PATL1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	59,636,716 - 59,669,037 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	59,636,716 - 59,669,037 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	59,404,189 - 59,436,510 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	59,160,770 - 59,182,994 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	56,766,936 - 56,799,259 (-)	NCBI		Celera
Cytogenetic Map	11	q12.1	NCBI
HuRef	11	55,751,480 - 55,783,808 (-)	NCBI		HuRef
CHM1_1	11	59,270,207 - 59,302,529 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	59,587,649 - 59,620,355 (-)	NCBI		T2T-CHM13v2.0

Patl1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	11,889,728 - 11,922,462 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	11,889,763 - 11,922,455 (+)	Ensembl		GRCm39 Ensembl
GRCm38	19	11,912,399 - 11,945,096 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	11,912,399 - 11,945,091 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	11,986,889 - 12,019,586 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	11,979,481 - 12,012,011 (+)	NCBI		MGSCv36	mm8
Celera	19	12,605,678 - 12,638,262 (+)	NCBI		Celera
Cytogenetic Map	19	A	NCBI
cM Map	19	8.57	NCBI

Patl1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	218,255,801 - 218,287,662 (+)	NCBI		GRCr8
mRatBN7.2	1	208,831,115 - 208,862,904 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	208,831,115 - 208,862,857 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	217,205,779 - 217,237,531 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	224,181,679 - 224,213,441 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	216,960,225 - 216,991,968 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	228,337,756 - 228,369,719 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	228,337,767 - 228,369,761 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	235,401,989 - 235,433,952 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	214,755,170 - 214,787,272 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	214,912,909 - 214,945,743 (+)	NCBI
Celera	1	206,298,832 - 206,330,574 (+)	NCBI		Celera
Cytogenetic Map	1	q43	NCBI

Patl1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955511	4,092,257 - 4,119,077 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955511	4,090,841 - 4,119,077 (-)	NCBI	ChiLan1.0	ChiLan1.0

PATL1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	60,767,146 - 60,801,732 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	61,811,229 - 61,843,150 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	54,861,349 - 54,893,279 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	58,311,230 - 58,342,561 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	58,311,235 - 58,342,561 (-)	Ensembl	panpan1.1		panPan2

PATL1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	37,109,288 - 37,138,756 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	18	37,109,410 - 37,137,156 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	36,757,509 - 36,785,988 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	37,748,206 - 37,776,677 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	37,748,124 - 37,777,413 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	37,338,132 - 37,366,569 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	36,913,966 - 36,942,673 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	37,543,665 - 37,572,397 (+)	NCBI		UU_Cfam_GSD_1.0

Patl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	12,959,952 - 12,986,765 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936581	3,074,572 - 3,098,932 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936581	3,075,371 - 3,100,584 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PATL1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	11,827,773 - 11,857,691 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	11,826,816 - 11,857,699 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	11,288,232 - 11,330,834 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PATL1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	13,955,730 - 13,989,364 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	13,957,050 - 13,988,488 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	111,284,744 - 111,318,143 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Patl1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624864	1,136,999 - 1,161,320 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624864	1,136,868 - 1,162,720 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PATL1
45 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_152716.2(PATL1):c.573C>T (p.Pro191=)	single nucleotide variant	Malignant melanoma [RCV000069531]	Chr11:59657578 [GRCh38] Chr11:59425051 [GRCh37] Chr11:59181627 [NCBI36] Chr11:11q12.1	not provided
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_152716.3(PATL1):c.541A>G (p.Ile181Val)	single nucleotide variant	not specified [RCV004303740]	Chr11:59657610 [GRCh38] Chr11:59425083 [GRCh37] Chr11:11q12.1	likely benign
GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	copy number gain	not provided [RCV000683362]	Chr11:58935215..62177656 [GRCh37] Chr11:11q12.1-12.3	likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_152716.3(PATL1):c.675T>C (p.Pro225=)	single nucleotide variant	not provided [RCV000881508]	Chr11:59656547 [GRCh38] Chr11:59424020 [GRCh37] Chr11:11q12.1	benign
NM_152716.3(PATL1):c.1629T>C (p.Tyr543=)	single nucleotide variant	not provided [RCV000923928]	Chr11:59649566 [GRCh38] Chr11:59417039 [GRCh37] Chr11:11q12.1	likely benign
NM_152716.3(PATL1):c.877C>T (p.Leu293Phe)	single nucleotide variant	not provided [RCV000951292]	Chr11:59655677 [GRCh38] Chr11:59423150 [GRCh37] Chr11:11q12.1	likely benign
NM_152716.3(PATL1):c.910C>A (p.Arg304=)	single nucleotide variant	not provided [RCV000968216]	Chr11:59655644 [GRCh38] Chr11:59423117 [GRCh37] Chr11:11q12.1	benign
NM_152716.3(PATL1):c.1068C>T (p.His356=)	single nucleotide variant	not provided [RCV000888763]	Chr11:59654036 [GRCh38] Chr11:59421509 [GRCh37] Chr11:11q12.1	benign
NM_152716.3(PATL1):c.1679A>G (p.His560Arg)	single nucleotide variant	not specified [RCV004309945]	Chr11:59649516 [GRCh38] Chr11:59416989 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.25G>A (p.Asp9Asn)	single nucleotide variant	not specified [RCV004284331]	Chr11:59666955 [GRCh38] Chr11:59434428 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.400C>A (p.Arg134=)	single nucleotide variant	not provided [RCV000888764]	Chr11:59658892 [GRCh38] Chr11:59426365 [GRCh37] Chr11:11q12.1	benign
NM_152716.3(PATL1):c.1045A>G (p.Met349Val)	single nucleotide variant	not provided [RCV000891486]	Chr11:59654059 [GRCh38] Chr11:59421532 [GRCh37] Chr11:11q12.1	likely benign
NC_000011.9:g.(?_58916346)_(64972349_?)dup	duplication	Leukocyte adhesion deficiency 3 [RCV003113394]\|not provided [RCV003113393]	Chr11:58916346..64972349 [GRCh37] Chr11:11q12.1-13.1	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	copy number gain	See cases [RCV002286338]	Chr11:51581311..54891247 [GRCh37] Chr11:11p11.2-q12.2	pathogenic
NM_152716.3(PATL1):c.707A>C (p.Gln236Pro)	single nucleotide variant	not specified [RCV004164323]	Chr11:59656515 [GRCh38] Chr11:59423988 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.601G>A (p.Val201Ile)	single nucleotide variant	not specified [RCV004129421]	Chr11:59657550 [GRCh38] Chr11:59425023 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.346C>A (p.Pro116Thr)	single nucleotide variant	not specified [RCV004122354]	Chr11:59658946 [GRCh38] Chr11:59426419 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.785A>C (p.Gln262Pro)	single nucleotide variant	not specified [RCV004161243]	Chr11:59655984 [GRCh38] Chr11:59423457 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1547G>A (p.Arg516Gln)	single nucleotide variant	not specified [RCV004074445]	Chr11:59650791 [GRCh38] Chr11:59418264 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1837C>T (p.Leu613Phe)	single nucleotide variant	not specified [RCV004072190]	Chr11:59647810 [GRCh38] Chr11:59415283 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1589A>G (p.Tyr530Cys)	single nucleotide variant	not specified [RCV004212699]	Chr11:59649606 [GRCh38] Chr11:59417079 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1343A>C (p.Glu448Ala)	single nucleotide variant	not specified [RCV004246998]	Chr11:59652547 [GRCh38] Chr11:59420020 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1334C>T (p.Ala445Val)	single nucleotide variant	not specified [RCV004201676]	Chr11:59652556 [GRCh38] Chr11:59420029 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.2179C>T (p.Arg727Trp)	single nucleotide variant	not specified [RCV004124383]	Chr11:59639160 [GRCh38] Chr11:59406633 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.220G>A (p.Asp74Asn)	single nucleotide variant	not specified [RCV004185875]	Chr11:59659377 [GRCh38] Chr11:59426850 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.973G>A (p.Ala325Thr)	single nucleotide variant	not specified [RCV004185957]	Chr11:59655581 [GRCh38] Chr11:59423054 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.470G>C (p.Arg157Thr)	single nucleotide variant	not specified [RCV004085646]	Chr11:59657681 [GRCh38] Chr11:59425154 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1574T>C (p.Ile525Thr)	single nucleotide variant	not specified [RCV004260752]	Chr11:59650764 [GRCh38] Chr11:59418237 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1165C>T (p.Arg389Trp)	single nucleotide variant	not specified [RCV004259136]	Chr11:59652975 [GRCh38] Chr11:59420448 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.769G>C (p.Val257Leu)	single nucleotide variant	not specified [RCV004335206]	Chr11:59656000 [GRCh38] Chr11:59423473 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.842A>C (p.Gln281Pro)	single nucleotide variant	not specified [RCV004359032]	Chr11:59655712 [GRCh38] Chr11:59423185 [GRCh37] Chr11:11q12.1	uncertain significance
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	copy number gain	not specified [RCV003986918]	Chr11:50398499..63924462 [GRCh37] Chr11:11p11.12-q13.1	likely pathogenic
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	copy number gain	not specified [RCV003986944]	Chr11:56895955..69295402 [GRCh37] Chr11:11q12.1-13.3	likely pathogenic
NM_152716.3(PATL1):c.280G>A (p.Val94Met)	single nucleotide variant	not specified [RCV004502837]	Chr11:59659317 [GRCh38] Chr11:59426790 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.2258G>A (p.Arg753Gln)	single nucleotide variant	not specified [RCV004502836]	Chr11:59639081 [GRCh38] Chr11:59406554 [GRCh37] Chr11:11q12.1	likely benign
NM_152716.3(PATL1):c.1420A>G (p.Lys474Glu)	single nucleotide variant	not specified [RCV004502831]	Chr11:59652470 [GRCh38] Chr11:59419943 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1951A>T (p.Ser651Cys)	single nucleotide variant	not specified [RCV004502834]	Chr11:59642978 [GRCh38] Chr11:59410451 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.412C>T (p.Pro138Ser)	single nucleotide variant	not specified [RCV004502838]	Chr11:59658880 [GRCh38] Chr11:59426353 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.760G>A (p.Val254Ile)	single nucleotide variant	not specified [RCV004502840]	Chr11:59656009 [GRCh38] Chr11:59423482 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1166G>A (p.Arg389Gln)	single nucleotide variant	not specified [RCV004502830]	Chr11:59652974 [GRCh38] Chr11:59420447 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1639C>A (p.Leu547Met)	single nucleotide variant	not specified [RCV004502832]	Chr11:59649556 [GRCh38] Chr11:59417029 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1850C>T (p.Ala617Val)	single nucleotide variant	not specified [RCV004502833]	Chr11:59647797 [GRCh38] Chr11:59415270 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.571C>G (p.Pro191Ala)	single nucleotide variant	not specified [RCV004502839]	Chr11:59657580 [GRCh38] Chr11:59425053 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.605C>T (p.Pro202Leu)	single nucleotide variant	not specified [RCV004664224]	Chr11:59657546 [GRCh38] Chr11:59425019 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.2108A>C (p.Asp703Ala)	single nucleotide variant	not specified [RCV004651002]	Chr11:59639325 [GRCh38] Chr11:59406798 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.696G>T (p.Met232Ile)	single nucleotide variant	not specified [RCV004651003]	Chr11:59656526 [GRCh38] Chr11:59423999 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.121G>A (p.Ala41Thr)	single nucleotide variant	not specified [RCV004664225]	Chr11:59666859 [GRCh38] Chr11:59434332 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.2093A>T (p.Asp698Val)	single nucleotide variant	not specified [RCV004651004]	Chr11:59639340 [GRCh38] Chr11:59406813 [GRCh37] Chr11:11q12.1	uncertain significance
NM_152716.3(PATL1):c.1553_1555del (p.Lys518del)	deletion	not provided [RCV004699009]	Chr11:59650783..59650785 [GRCh38] Chr11:59418256..59418258 [GRCh37] Chr11:11q12.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	930
Count of miRNA genes:	629
Interacting mature miRNAs:	698
Transcripts:	ENST00000300146, ENST00000531919
Prediction methods:	Miranda, Rnahybrid, Targetscan
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597216896	GWAS1312970_H	BMI-adjusted hip circumference QTL GWAS1312970 (human)		0.000009	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	11	59666070	59666071	Human
597293748	GWAS1389822_H	lysophosphatidylcholine 15:0 measurement QTL GWAS1389822 (human)		4e-08	lysophosphatidylcholine 15:0 measurement		11	59654083	59654084	Human
597296343	GWAS1392417_H	lysophosphatidylcholine 15:0 measurement QTL GWAS1392417 (human)		0.0000001	lysophosphatidylcholine 15:0 measurement		11	59654083	59654084	Human

Markers in Region

WI-14640

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	59,404,254 - 59,404,353	UniSTS	GRCh37
Build 36	11	59,160,830 - 59,160,929	RGD	NCBI36
Celera	11	56,767,001 - 56,767,100	RGD
Cytogenetic Map	11	q12.1	UniSTS
HuRef	11	55,751,545 - 55,751,644	UniSTS
GeneMap99-GB4 RH Map	11	219.55	UniSTS
Whitehead-RH Map	11	286.8	UniSTS

RH91886

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	59,410,244 - 59,410,375	UniSTS	GRCh37
Build 36	11	59,166,820 - 59,166,951	RGD	NCBI36
Celera	11	56,772,991 - 56,773,122	RGD
Cytogenetic Map	11	q12.1	UniSTS
HuRef	11	55,757,535 - 55,757,666	UniSTS
GeneMap99-GB4 RH Map	11	219.61	UniSTS

RH102847

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	59,405,224 - 59,405,371	UniSTS	GRCh37
Build 36	11	59,161,800 - 59,161,947	RGD	NCBI36
Celera	11	56,767,971 - 56,768,118	RGD
Cytogenetic Map	11	q12.1	UniSTS
HuRef	11	55,752,515 - 55,752,662	UniSTS
GeneMap99-GB4 RH Map	11	219.66	UniSTS

D11S1810

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	59,433,242 - 59,433,348	UniSTS	GRCh37
Build 36	11	59,189,818 - 59,189,924	RGD	NCBI36
Celera	11	56,795,990 - 56,796,096	RGD
Cytogenetic Map	11	q12.1	UniSTS
HuRef	11	55,780,539 - 55,780,645	UniSTS

STS-AA019553

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	59,422,349 - 59,422,574	UniSTS	GRCh37
Build 36	11	59,178,925 - 59,179,150	RGD	NCBI36
Celera	11	56,785,097 - 56,785,322	RGD
Cytogenetic Map	11	q12.1	UniSTS
HuRef	11	55,769,649 - 55,769,874	UniSTS
GeneMap99-GB4 RH Map	11	198.22	UniSTS
NCBI RH Map	11	518.5	UniSTS

Expression

RNA-SEQ Expression

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	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_152716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB065087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK127649	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK127943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL831992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP000442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP000640	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC023255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC048309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC109038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC109039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC409866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000300146 ⟹ ENSP00000300146

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	59,636,716 - 59,669,037 (-)	Ensembl

Ensembl Acc Id:

ENST00000531919

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	59,642,674 - 59,647,886 (-)	Ensembl

RefSeq Acc Id:

NM_152716 ⟹ NP_689929

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	59,636,716 - 59,669,037 (-)	NCBI
GRCh37	11	59,404,189 - 59,436,513 (-)	NCBI
Build 36	11	59,160,770 - 59,182,994 (-)	NCBI Archive
Celera	11	56,766,936 - 56,799,259 (-)	RGD
HuRef	11	55,751,480 - 55,783,808 (-)	RGD
CHM1_1	11	59,270,207 - 59,302,529 (-)	NCBI
T2T-CHM13v2.0	11	59,587,649 - 59,620,355 (-)	NCBI

Sequence:

show sequence

CGTCCCCACGCACGCTCCGGCGTACGGCGGCGGCCAGGGGTCGCGAGCCGGTGGAGGACCCGCG
CGCGGAGGAGCCGGGGAGTCAGCGCTTCTTCCCTCCCTCCCCCTCTCCCCTCCCCGCTCCCTGC
CCCCCTCCCCAAGAATGTTCCGCTACGAGTCTTTGGAGGATTGTCCTCTGGATGAAGATGAAGA
TGCATTTCAGGGACTGGGAGAAGAAGATGAAGAGATTGATCAATTCAATGATGATACATTTGGG
TCAGGTGCAGTTGATGATGATTGGCAGGAAGCACATGAGCGCCTGGCTGAATTGGAAGAAAAGC
TACCAGTGGCAGTTAATGAACAAACAGGCAATGGAGAGAGAGATGAAATGGACTTGTTGGGTGA
CCATGAGGAGAATCTGGCAGAAAGGCTCAGTAAGATGGTGATTGAAAATGAACTAGAAGATCCA
GCTATTATGAGGGCAGTGCAGACCAGGCCAGTTTTACAACCCCAACCAGGAAGTCTGAATTCCA
GTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGAAATGCC
TACAGTGTCTGTATTAGAATATGCTTTGCCTCAGAGGCCCCCCCAGGGTCCAGAAGATGATCGG
GACCTTTCTGAACGAGCATTACCAAGGCGGTCAACTTCACCTATCATTGGCAGTCCTCCTGTTA
GAGCTGTCCCCATAGGCACCCCACCTAAACAGATGGCTGTACCCAGCTTCACCCAACAGATTCT
GTGTCCGAAGCCTGTCCATGTTCGGCCCCCAATGCCACCTCGTTATCCTGCTCCCTATGGTGAG
AGGATGTCTCCAAACCAGCTCTGCAGTGTCCCGAACTCTTCCCTCCTGGGTCACCCTTTTCCTC
CTAGTGTTCCTCCTGTTCTCAGCCCCCTCCAGAGAGCACAGCTTCTTGGAGGAGCACAGCTACA
GCCTGGACGGATGTCTCCCAGCCAGTTTGCACGGGTCCCTGGATTTGTTGGTAGTCCACTTGCT
GCCATGAATCCCAAGTTGCTACAAGGGCGAGTTGGGCAGATGCTTCCCCCAGCACCAGGCTTCC
GTGCCTTCTTTAGTGCTCCACCCTCCGCTACACCACCTCCACAGCAGCACCCTCCTGGCCCAGG
ACCCCACCTGCAAAACCTAAGATCTCAGGCCCCAATGTTTAGACCGGACACAACTCACCTCCAT
CCACAGCACCGTCGACTCTTGCATCAGAGACAGCAACAGAATAGAAGTCAGCATCGGAATCTCA
ATGGTGCGGGAGATAGAGGAAGTCACCGGAGCAGTCATCAAGATCATCTCCGAAAGGATCCATA
TGCCAATCTCATGTTGCAGCGGGAAAAGGATTGGGTCTCTAAAATCCAGATGATGCAACTGCAA
AGCACTGATCCCTACCTGGATGATTTTTATTACCAGAATTACTTTGAAAAACTGGAGAAACTGT
CAGCTGCTGAAGAAATACAAGGTGATGGCCCTAAGAAGGAGCGCACCAAGCTTATCACCCCTCA
GGTGGCCAAACTGGAGCACGCCTATAAGCCAGTGCAATTTGAGGGCTCTTTGGGAAAGCTTACC
GTTTCTAGTGTGAATAATCCCCGAAAAATGATTGATGCTGTTGTGACATCTCGGAGTGAGGATG
ATGAGACAAAAGAAAAACAAGTTCGAGACAAGAGGAGAAAAACCCTTGTTATAATTGAGAAAAC
CTACAGCTTACTCCTTGATGTGGAGGACTATGAAAGACGTTATCTCCTAAGTCTGGAAGAAGAG
CGACCTGCCCTAATGGATGACAGAAAGCACAAAATTTGTAGCATGTATGACAACTTAAGGGGGA
AATTGCCTGGACAAGAGAGGCCTAGTGATGACCACTTTGTACAGATCATGTGTATCCGAAAAGG
GAAGAGAATGGTTGCCCGTATTCTTCCTTTCCTCTCCACAGAGCAAGCAGCTGACATTCTCATG
ACAACAGCCAGGAACCTCCCTTTCCTTATCAAGAAGGATGCACAAGATGAGGTGCTGCCATGCT
TACTGAGTCCCTTCTCTCTCCTTCTCTATCATCTTCCATCAGTGAGTATCACCAGCCTTTTGCG
ACAGCTAATGAACCTACCTCAAAGTGCAGCTACACCAGCACTCTCCAATCCTCACCTCACTGCT
GTGCTCCAGAACAAGTTTGGCCTGTCACTGCTCCTCATCCTCCTGAGCCGTGGTGAAGACCTAC
AGAGTTCAGACCCTGCTACAGAATCAACACAAAATAATCAGTGGACGGAGGTGATGTTCATGGC
AACACGAGAACTTCTGCGGATTCCCCAAGCAGCCCTGGCCAAGCCAATCTCTATACCTACAAAC
CTAGTGTCCCTCTTTTCTCGCTATGTTGACCGGCAGAAACTGAACTTGCTGGAGACAAAACTGC
AGCTAGTTCAGGGGATACGATAAAAGATCTCCAAATGTGTCCTGTACCTCCTTTTGGCTGCCAC
CTGCACTGCTGCCATCACCAATGGAGTGTTTTTAATGAGGGAAGGAAGGTAGCTTTTTCCCCAA
AGCAAAGTCTTGTGGGATCGATTCCTGTTTACAGGGGTTGTCTCTCTAAATGTCAGATATTTCC
CCACTGCTCTATGAAATTTGGCTGGGTGATACTTCTGCTGGTTTCTTTACCTTCTGTGTTACAG
TTCTGCATGTCCTACTTTTACTCAGTTCTGTTTTGCATTTTCTTTGCCCTAGAGACACAAGTGT
AATCTCTCCCTTTATCCCTCCACTACTCCACCTCAGAGTAGATTGTAGCCTGCCAAAGGATTCC
TTCCCTCATCCTATTGAAGTTGTTTTTTCATTGCCCCATATTAATATGACTATAGAAGAGCCAA
TTAAGTAGAAATCAAGATATACACACACACATAGATACACACACACACACCCCATACATGTATT
TATGTGGTCTTCAGAGGGTCCTTAAAGAATGAATTTTAGATTGAAAAATATTTAGTTGTCTCAT
TACCTCTTCTAAACACAAACCAGCTGATGTATTTTAATCTGTTTCTGTTCTATCTTGTAATTAA
TTTGGTGGGTTCTACTTGTTTTAACATAAATAAAGAGTATGCAGCACGTTTAATAAAATCAGAA
CTCTTAATTGGCTTATGCCCAGGTCTAGGCTGAGAAGTCCTTTTTCTTCTTCCCACCTTTATTT
CCTTAGTTTCTGTCCACCTTAATCGAAACAACACATGGTTATGTCTTTTTCCTGCTACAACTAC
AGGGTACTTGAGCCTTTCCCCTCAAGTGCATTCGAAGTCACCCAGGATGATCCTCACTAGTAGC
CTGCTTTGGCAGTGTGGCTTTTTGCACACTTGCCCTGTCTTCCTGAGACTACTTCAGTAAGCCA
TGCTTCCTTCTTCCCCACTTTTATTTGGTGTCATGAATAGAAACTTCCAAATGTAACCATGGAA
GCTAAGTTTGGCCTGCTTTGCTTTTTAGTCTCCACACCATGGGCAGAACTGCTGTCTTTACTAC
TTCATCTCACCCAAGTCCCGTTCCCAGGCAGCCAGGGGCCTGGGTTTGAATAATTGCAGGGCCA
GCCTGCCATGATCTTTCTCACTTACTCCTCTCCCATTCAGCAATCAACCAGACTAAGGAGTTTT
GATCCCTAGTGATTACAGCCCTGAAGAAAATTAAATCTGAATTAATTTTACATGGCCTTCGTGA
TCTTTCTGCTGTTCTTACTTTTTCGAATGTAGTTGGGGGGTGGGAGGGACAGGTTATGGTATTT
AAAGAGAATAAACATTTTGCACATACATGTATTGTACAACAGTAAGATCCTCTGTTAAAACCAG
CTGTCCTGTTCTCCATCTCCATTTCTTCCCATGCTGTAACCCCAGGCTCCACCAGCTGTTCCCC
AGTGATGTTACCTAGCTTCCCTCTACCGTTGTCTACTGACCATTTCCACTACATGCCTTTCCTA
CCTTCCCTTCACAACCAATCAAGTGAATACTTGATTATTATCTCTTCCTTACTGTGCTTTATCT
TTTTTGTTTGGATTGGTTCTAATTAATGAAAATAAAAGTTTCTAAATTTACATTTTTATAGGGT
ATTGTAAATAAAAACAAATTGTATACTTAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_689929	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH65264	(Get FASTA)	NCBI Sequence Viewer
	AAI09039	(Get FASTA)	NCBI Sequence Viewer
	AAI09040	(Get FASTA)	NCBI Sequence Viewer
	AAI11048	(Get FASTA)	NCBI Sequence Viewer
	BAB93524	(Get FASTA)	NCBI Sequence Viewer
	BAC04305	(Get FASTA)	NCBI Sequence Viewer
	BAG54542	(Get FASTA)	NCBI Sequence Viewer
	BAG54601	(Get FASTA)	NCBI Sequence Viewer
	BAH11469	(Get FASTA)	NCBI Sequence Viewer
	CAD89916	(Get FASTA)	NCBI Sequence Viewer
	EAW73850	(Get FASTA)	NCBI Sequence Viewer
	EAW73851	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000300146
	ENSP00000300146.9
GenBank Protein	Q86TB9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_689929 ⟸ NM_152716

- UniProtKB:

Q86TB9 (UniProtKB/Swiss-Prot), Q8N9M6 (UniProtKB/Swiss-Prot), Q6P166 (UniProtKB/Swiss-Prot), Q2TA86 (UniProtKB/Swiss-Prot), B3KXT9 (UniProtKB/Swiss-Prot), Q8NI63 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MFRYESLEDCPLDEDEDAFQGLGEEDEEIDQFNDDTFGSGAVDDDWQEAHERLAELEEKLPVAV
NEQTGNGERDEMDLLGDHEENLAERLSKMVIENELEDPAIMRAVQTRPVLQPQPGSLNSSIWDG
SEVLRRIRGPLLAQEMPTVSVLEYALPQRPPQGPEDDRDLSERALPRRSTSPIIGSPPVRAVPI
GTPPKQMAVPSFTQQILCPKPVHVRPPMPPRYPAPYGERMSPNQLCSVPNSSLLGHPFPPSVPP
VLSPLQRAQLLGGAQLQPGRMSPSQFARVPGFVGSPLAAMNPKLLQGRVGQMLPPAPGFRAFFS
APPSATPPPQQHPPGPGPHLQNLRSQAPMFRPDTTHLHPQHRRLLHQRQQQNRSQHRNLNGAGD
RGSHRSSHQDHLRKDPYANLMLQREKDWVSKIQMMQLQSTDPYLDDFYYQNYFEKLEKLSAAEE
IQGDGPKKERTKLITPQVAKLEHAYKPVQFEGSLGKLTVSSVNNPRKMIDAVVTSRSEDDETKE
KQVRDKRRKTLVIIEKTYSLLLDVEDYERRYLLSLEEERPALMDDRKHKICSMYDNLRGKLPGQ
ERPSDDHFVQIMCIRKGKRMVARILPFLSTEQAADILMTTARNLPFLIKKDAQDEVLPCLLSPF
SLLLYHLPSVSITSLLRQLMNLPQSAATPALSNPHLTAVLQNKFGLSLLLILLSRGEDLQSSDP
ATESTQNNQWTEVMFMATRELLRIPQAALAKPISIPTNLVSLFSRYVDRQKLNLLETKLQLVQG
IR

hide sequence

Ensembl Acc Id:

ENSP00000300146 ⟸ ENST00000300146

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q86TB9-F1-model_v2	AlphaFold	Q86TB9	1-770	view protein structure

Promoters

RGD ID:

6789205

Promoter ID:

HG_KWN:12990

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_152716, UC009YMS.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	59,192,736 - 59,193,627 (-)	MPROMDB

RGD ID:

7220439

Promoter ID:

EPDNEW_H15965

Type:

initiation region

Name:

PATL1_1

Description:

PAT1 homolog 1, processing body mRNA decay factor

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	59,669,016 - 59,669,076	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:26721	AgrOrtholog
COSMIC	PATL1	COSMIC
Ensembl Genes	ENSG00000166889	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000300146	ENTREZGENE
	ENST00000300146.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000166889	GTEx
HGNC ID	HGNC:26721	ENTREZGENE
Human Proteome Map	PATL1	Human Proteome Map
InterPro	Pat1-like	UniProtKB/Swiss-Prot
	PAT1_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:219988	UniProtKB/Swiss-Prot
NCBI Gene	219988	ENTREZGENE
OMIM	614660	OMIM
PANTHER	PROTEIN PAT1 HOMOLOG 1	UniProtKB/Swiss-Prot
	PTHR21551	UniProtKB/Swiss-Prot
Pfam	PAT1	UniProtKB/Swiss-Prot
PharmGKB	PA162398769	PharmGKB
UniProt	B3KXT9	ENTREZGENE
	PATL1_HUMAN	UniProtKB/Swiss-Prot
	Q2TA86	ENTREZGENE
	Q6P166	ENTREZGENE
	Q86TB9	ENTREZGENE
	Q8N9M6	ENTREZGENE
	Q8NI63	ENTREZGENE
UniProt Secondary	B3KXT9	UniProtKB/Swiss-Prot
	Q2TA86	UniProtKB/Swiss-Prot
	Q6P166	UniProtKB/Swiss-Prot
	Q8N9M6	UniProtKB/Swiss-Prot
	Q8NI63	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-05-03	PATL1	PAT1 homolog 1, processing body mRNA decay factor		protein associated with topoisomerase II homolog 1 (yeast)	Symbol and/or name change	5135510	APPROVED

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Human Phenotype Annotations - ClinVar