PITHD1 (PITH domain containing 1)

Gene: PITHD1 (PITH domain containing 1) Homo sapiens

Analyze

Symbol:

PITHD1

Name:

PITH domain containing 1

RGD ID:

1603974

HGNC Page

HGNC:25022

Description:

Involved in positive regulation of DNA-templated transcription and positive regulation of megakaryocyte differentiation. Located in cytoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C1orf128; chromosome 1 open reading frame 128; HT014; PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1; PITH domain-containing protein 1; RP5-886K2.4; TXNL1 C-terminal like; TXNL1CL

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	23,778,418 - 23,788,232 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	23,778,418 - 23,788,232 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	24,104,908 - 24,114,722 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	23,977,470 - 23,987,309 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	22,434,441 - 22,444,284 (+)	NCBI		Celera
Cytogenetic Map	1	p36.11	NCBI
HuRef	1	22,356,450 - 22,366,299 (+)	NCBI		HuRef
CHM1_1	1	24,217,668 - 24,227,511 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	23,613,387 - 23,623,208 (+)	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

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

antirheumatic drug (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

cadmium dichloride (ISO)

carbon nanotube (ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

enzyme inhibitor (EXP)

finasteride (ISO)

folic acid (ISO)

fulvestrant (EXP)

glafenine (ISO)

lead(0) (EXP)

Licochalcone B (EXP)

methyl methanesulfonate (EXP)

nefazodone (ISO)

nimesulide (ISO)

ozone (EXP)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

quercetin (EXP)

SB 431542 (EXP)

silver atom (EXP)

silver(0) (EXP)

sodium arsenite (ISO)

Soman (ISO)

sulindac (ISO)

trichostatin A (EXP)

urethane (EXP)

valproic acid (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

penetration of cumulus oophorus (IEA,ISO)

penetration of zona pellucida (IEA,ISO)

positive regulation of DNA-templated transcription (IDA)

positive regulation of megakaryocyte differentiation (IEA,IMP)

regulation of proteasomal protein catabolic process (IEA,ISO)

spermatid development (IEA,ISO)

Cellular Component

cytoplasm (IDA,IEA)

nucleus (HDA,IBA,IEA)

sperm cytoplasmic droplet (IEA)

Molecular Function

protein binding (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:14702039	PMID:16169070	PMID:16236267	PMID:16344560	PMID:19322201	PMID:21630459	PMID:21873635	PMID:24981860	PMID:25134913	PMID:26186194	PMID:26344197
PMID:26972000	PMID:27114451	PMID:27432908	PMID:28514442	PMID:29791485	PMID:31091453	PMID:31533654	PMID:31915251	PMID:31950832	PMID:32989298	PMID:33961781	PMID:34115363
PMID:34315543	PMID:34728620	PMID:35831314	PMID:35914814	PMID:35944360	PMID:36114006	PMID:36215168	PMID:38113892

Genomics

Comparative Map Data

PITHD1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	23,778,418 - 23,788,232 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	23,778,418 - 23,788,232 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	24,104,908 - 24,114,722 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	23,977,470 - 23,987,309 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	22,434,441 - 22,444,284 (+)	NCBI		Celera
Cytogenetic Map	1	p36.11	NCBI
HuRef	1	22,356,450 - 22,366,299 (+)	NCBI		HuRef
CHM1_1	1	24,217,668 - 24,227,511 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	23,613,387 - 23,623,208 (+)	NCBI		T2T-CHM13v2.0

Pithd1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	135,702,913 - 135,714,555 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	135,702,771 - 135,714,575 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	135,975,602 - 135,987,244 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	135,975,460 - 135,987,264 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	135,531,517 - 135,543,159 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	135,247,681 - 135,259,321 (-)	NCBI		MGSCv36	mm8
Celera	4	134,176,727 - 134,188,088 (-)	NCBI		Celera
Cytogenetic Map	4	D3	NCBI
cM Map	4	68.34	NCBI

Pithd1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	153,489,529 - 153,500,025 (-)	NCBI		GRCr8
mRatBN7.2	5	148,205,995 - 148,216,490 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	148,205,998 - 148,217,080 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	150,904,994 - 150,915,889 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	152,679,263 - 152,690,158 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	152,661,275 - 152,672,171 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	154,322,562 - 154,333,080 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	154,322,551 - 154,332,940 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	158,087,413 - 158,097,947 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	154,758,057 - 154,768,487 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	154,768,000 - 154,778,565 (-)	NCBI
Celera	5	146,612,852 - 146,623,219 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Pithd1
(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_004955452	3,696,632 - 3,708,166 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955452	3,696,632 - 3,708,166 (+)	NCBI	ChiLan1.0	ChiLan1.0

PITHD1
(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	1	203,152,886 - 203,163,812 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	202,255,855 - 202,266,781 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	22,970,081 - 22,979,841 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	23,954,980 - 23,964,085 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	23,954,980 - 23,964,085 (+)	Ensembl	panpan1.1		panPan2

PITHD1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	75,714,592 - 75,721,301 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	75,708,988 - 75,721,286 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	72,284,653 - 72,291,039 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	76,273,853 - 76,280,239 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	76,273,855 - 76,280,247 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	73,096,203 - 73,102,588 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	74,102,852 - 74,109,279 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	75,108,452 - 75,114,840 (-)	NCBI		UU_Cfam_GSD_1.0

Pithd1
(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_024405058	43,108,834 - 43,118,284 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	8,933,557 - 8,943,189 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	8,933,598 - 8,943,066 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PITHD1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	81,591,018 - 81,598,868 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	81,590,868 - 81,598,874 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	75,427,987 - 75,435,969 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PITHD1
(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	20	108,896,650 - 108,906,409 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	108,897,503 - 108,906,289 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	7,428,645 - 7,438,407 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pithd1
(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_004624764	8,325,683 - 8,337,185 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624764	8,325,680 - 8,337,185 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PITHD1
8 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_007260.2(LYPLA2):c.74C>T (p.Ala25Val)	single nucleotide variant	Malignant melanoma [RCV000064612]	Chr1:23792756 [GRCh38] Chr1:24119246 [GRCh37] Chr1:23991833 [NCBI36] Chr1:1p36.11	not provided
NM_007260.2(LYPLA2):c.75C>T (p.Ala25=)	single nucleotide variant	Malignant melanoma [RCV000064613]	Chr1:23792757 [GRCh38] Chr1:24119247 [GRCh37] Chr1:23991834 [NCBI36] Chr1:1p36.11	not provided
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
chr1:17555508-24706269 complex variant	complex	Breast ductal adenocarcinoma [RCV000207266]	Chr1:17555508..24706269 [GRCh37] Chr1:1p36.13-36.11	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
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
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
GRCh37/hg19 1p36.12-36.11(chr1:23814543-24163928)	copy number loss	Lamb-Shaffer syndrome [RCV002280623]	Chr1:23814543..24163928 [GRCh37] Chr1:1p36.12-36.11	pathogenic
NC_000001.10:g.(?_19199339)_(24690861_?)dup	duplication	Deficiency of hydroxymethylglutaryl-CoA lyase [RCV003122155]	Chr1:19199339..24690861 [GRCh37] Chr1:1p36.13-36.11	uncertain significance
GRCh37/hg19 1p36.12-36.11(chr1:23680995-24224241)x3	copy number gain	not provided [RCV002473953]	Chr1:23680995..24224241 [GRCh37] Chr1:1p36.12-36.11	uncertain significance
NM_020362.5(PITHD1):c.602A>G (p.His201Arg)	single nucleotide variant	not specified [RCV004236053]	Chr1:23787342 [GRCh38] Chr1:24113832 [GRCh37] Chr1:1p36.11	uncertain significance
GRCh37/hg19 1p36.11(chr1:24111388-24686443)x3	copy number gain	not provided [RCV002475770]	Chr1:24111388..24686443 [GRCh37] Chr1:1p36.11	uncertain significance
NM_020362.5(PITHD1):c.563A>G (p.Asn188Ser)	single nucleotide variant	not specified [RCV004129839]	Chr1:23787303 [GRCh38] Chr1:24113793 [GRCh37] Chr1:1p36.11	uncertain significance
NM_020362.5(PITHD1):c.155G>T (p.Arg52Leu)	single nucleotide variant	not specified [RCV004086973]	Chr1:23778670 [GRCh38] Chr1:24105160 [GRCh37] Chr1:1p36.11	uncertain significance
GRCh37/hg19 1p36.11(chr1:24111522-24614856)x3	copy number gain	not provided [RCV002475645]	Chr1:24111522..24614856 [GRCh37] Chr1:1p36.11	uncertain significance
NM_020362.5(PITHD1):c.140G>T (p.Arg47Leu)	single nucleotide variant	not specified [RCV004187877]	Chr1:23778655 [GRCh38] Chr1:24105145 [GRCh37] Chr1:1p36.11	uncertain significance
NM_020362.5(PITHD1):c.248C>A (p.Thr83Lys)	single nucleotide variant	not specified [RCV004168140]	Chr1:23779869 [GRCh38] Chr1:24106359 [GRCh37] Chr1:1p36.11	uncertain significance
NM_020362.5(PITHD1):c.623A>G (p.His208Arg)	single nucleotide variant	not specified [RCV004069289]	Chr1:23787363 [GRCh38] Chr1:24113853 [GRCh37] Chr1:1p36.11	uncertain significance
NM_020362.5(PITHD1):c.157G>A (p.Gly53Ser)	single nucleotide variant	not specified [RCV004079243]	Chr1:23778672 [GRCh38] Chr1:24105162 [GRCh37] Chr1:1p36.11	uncertain significance
NM_020362.5(PITHD1):c.37C>T (p.Arg13Cys)	single nucleotide variant	not specified [RCV004274955]	Chr1:23778552 [GRCh38] Chr1:24105042 [GRCh37] Chr1:1p36.11	uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
NM_020362.5(PITHD1):c.481G>A (p.Gly161Arg)	single nucleotide variant	not specified [RCV004506127]	Chr1:23786370 [GRCh38] Chr1:24112860 [GRCh37] Chr1:1p36.11	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	887
Count of miRNA genes:	414
Interacting mature miRNAs:	460
Transcripts:	ENST00000246151, ENST00000374524, ENST00000415372
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.

Markers in Region

G44729

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	24,114,031 - 24,114,190	UniSTS	GRCh37
Build 36	1	23,986,618 - 23,986,777	RGD	NCBI36
Celera	1	22,443,593 - 22,443,752	RGD
Cytogenetic Map	1	p36.11	UniSTS
HuRef	1	22,365,608 - 22,365,767	UniSTS

SHGC-74385

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	24,114,513 - 24,114,639	UniSTS	GRCh37
Build 36	1	23,987,100 - 23,987,226	RGD	NCBI36
Celera	1	22,444,075 - 22,444,201	RGD
Cytogenetic Map	1	p36.11	UniSTS
HuRef	1	22,366,090 - 22,366,216	UniSTS
TNG Radiation Hybrid Map	1	10234.0	UniSTS
GeneMap99-GB4 RH Map	1	82.39	UniSTS
NCBI RH Map	1	124.2	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2439

2841

1723

621

1923

462

4357

2089

3713

418

1460

1613

175

1204

2788

Low

150

108

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_020362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011541804	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337786	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF218024	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF221595	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF271784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093546	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296662	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031295	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017208	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB104988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000246151 ⟹ ENSP00000246151

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	23,778,418 - 23,788,232 (+)	Ensembl

RefSeq Acc Id:

ENST00000374524 ⟹ ENSP00000363648

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	23,785,192 - 23,788,232 (+)	Ensembl

RefSeq Acc Id:

ENST00000415372 ⟹ ENSP00000405957

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	23,779,357 - 23,786,378 (+)	Ensembl

RefSeq Acc Id:

NM_020362 ⟹ NP_065095

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	23,778,418 - 23,788,232 (+)	NCBI
GRCh37	1	24,104,876 - 24,114,722 (+)	RGD
Build 36	1	23,977,470 - 23,987,309 (+)	NCBI Archive
Celera	1	22,434,441 - 22,444,284 (+)	RGD
HuRef	1	22,356,450 - 22,366,299 (+)	RGD
CHM1_1	1	24,217,668 - 24,227,511 (+)	NCBI
T2T-CHM13v2.0	1	23,613,387 - 23,623,208 (+)	NCBI

Sequence:

show sequence

AGTTGCCGGAGCTGAACGGCGCGGAGCTGGTCTGAGGCGAGCCGAGCCGAGCGAGCGCGGCGGT
GGGGCCGAGAGGACGCGCAGGTGGCGGCGTTGCCATGTCGCACGGTCACAGCCACGGCGGGGGT
GGCTGCCGCTGCGCCGCCGAACGGGAGGAGCCGCCCGAGCAGCGCGGCCTGGCCTACGGCCTGT
ACCTGCGCATCGACCTGGAGCGGCTGCAATGCCTTAACGAGAGCCGCGAGGGCAGCGGCCGCGG
CGTCTTCAAGCCGTGGGAGGAGCGGACCGACCGCTCCAAGTTTGTTGAAAGTGATGCAGATGAA
GAGCTTCTGTTTAATATTCCATTTACGGGCAATGTCAAGCTCAAAGGCATCATTATAATGGGAG
AGGATGATGACTCACACCCCTCTGAGATGAGACTGTACAAGAATATTCCACAGATGTCCTTTGA
TGATACAGAAAGGGAGCCAGATCAGACCTTTAGTCTGAACCGGGATCTTACAGGAGAATTAGAG
TATGCTACAAAAATTTCTCGTTTTTCAAATGTCTATCATCTCTCAATTCATATTTCAAAAAACT
TCGGAGCAGATACGACAAAGGTCTTTTATATTGGCCTGAGAGGAGAGTGGACTGAGCTTCGCCG
ACACGAGGTGACCATCTGCAATTACGAAGCATCTGCCAACCCAGCAGACCATAGGGTCCATCAG
GTTACCCCACAGACACACTTTATTTCCTAAGGGCTGGCCAAGGCTCCCATAGAGGCGCTGTGTC
AGTGAAGATGTACGACTACCTGTTGGGAAGGACAAAGGGATGAGGCTCCAGAGAGAGTTGGCTG
CCACAGCCTCTGCCAAGCTTTGTCTTTGGGGCTTGCTGCAGAAACCTGGCCTACGGAAGATACG
ACACCACTGGGAGGGTTGTGTAGGTGCCAGGGGACCATCGTGGTTCTCTAGGGCGCTGTGGAAA
TTGGGTCTTGGGCTGGGTGGCATCTGGCAGTCATGGGTAACACTTGCTTTTCCAGTTAATGTGG
CCATGTGATTCCAAGTGTCATGTTGCTTTGTGGCAAGATTGTTGTGTGACTTGTTTTTTTGTTT
TTGTTTTTGTTTTTTTAAAGGAAACTATTTGTGGGCTATAGGAAACTTTCTGATGCCTCCGGAT
TGTGTTAGTAGTAGCCATCAGGAGGGTCTCCAACTAAAACACTTGTTCCTGCTTGCTCCTTTCC
CCTCTCATTGTTCAGCATTCTTGTCAAGTTGCCCAGCTTGGAGTTGTCTGTCACGCACATGTGT
CCTGTGGTTATAGCTAGAAGGACAGGAGTCTCCTGCTGATGCGTGATAGCTTAAGCTTGGGGAG
AAGGTCTTTTCCACTGCCTAGCTAAGCAGTCTGGGGAGAGCATGGGGATCATTTCTATGTGTGT
GGGTAATCTGGTCAGTAAGATTGAGACTTAGTTAAGATTCCCCTTGGAAATTCCTTAATGTTTA
TTAGCTTCTAACTAGTGTTGTAAGTCCGATGCCAGAATTTGGAGATTTGAGTTCTTCTTTTCAT
GGCTTTTATTCACTGTGACTAATAAGCTTCCTAATAAATCCTTGCCAGACTTAA

hide sequence

RefSeq Acc Id:

XM_011541804 ⟹ XP_011540106

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	23,778,418 - 23,788,232 (+)	NCBI

Sequence:

show sequence

TAGTTGCCGGAGCTGAACGGCGCGGAGCTGGTCTGAGGCGAGCCGAGCCGAGCGAGCGCGGCGG
TGGGGCCGAGAGGACGCGCAGGTGGCGGCGTTGCCATGTCGCACGGTCACAGCCACGGCGGGGG
TGGCTGCCGCTGCGCCGCCGAACGGGAGGAGCCGCCCGAGCAGCGCGGCCTGGCCTACGGCCTG
TACCTGCGCATCGACCTGGAGCGGCTGCAATGCCTTAACGAGAGCCGCGAGGGCAGCGGCCGCG
GCGTCTTCAAGCCGTGGGAGGAGCGGACCGACCGCTCCAAGATTTACGGGCAATGTCAAGCTCA
AAGGCATCATTATAATGGGAGAGGATGATGACTCACACCCCTCTGAGATGAGACTGTACAAGAA
TATTCCACAGATGTCCTTTGATGATACAGAAAGGGAGCCAGATCAGACCTTTAGTCTGAACCGG
GATCTTACAGGAGAATTAGAGTATGCTACAAAAATTTCTCGTTTTTCAAATGTCTATCATCTCT
CAATTCATATTTCAAAAAACTTCGGAGCAGATACGACAAAGGTCTTTTATATTGGCCTGAGAGG
AGAGTGGACTGAGCTTCGCCGACACGAGGTGACCATCTGCAATTACGAAGCATCTGCCAACCCA
GCAGACCATAGGGTCCATCAGGTTACCCCACAGACACACTTTATTTCCTAAGGGCTGGCCAAGG
CTCCCATAGAGGCGCTGTGTCAGTGAAGATGTACGACTACCTGTTGGGAAGGACAAAGGGATGA
GGCTCCAGAGAGAGTTGGCTGCCACAGCCTCTGCCAAGCTTTGTCTTTGGGGCTTGCTGCAGAA
ACCTGGCCTACGGAAGATACGACACCACTGGGAGGGTTGTGTAGGTGCCAGGGGACCATCGTGG
TTCTCTAGGGCGCTGTGGAAATTGGGTCTTGGGCTGGGTGGCATCTGGCAGTCATGGGTAACAC
TTGCTTTTCCAGTTAATGTGGCCATGTGATTCCAAGTGTCATGTTGCTTTGTGGCAAGATTGTT
GTGTGACTTGTTTTTTTGTTTTTGTTTTTGTTTTTTTAAAGGAAACTATTTGTGGGCTATAGGA
AACTTTCTGATGCCTCCGGATTGTGTTAGTAGTAGCCATCAGGAGGGTCTCCAACTAAAACACT
TGTTCCTGCTTGCTCCTTTCCCCTCTCATTGTTCAGCATTCTTGTCAAGTTGCCCAGCTTGGAG
TTGTCTGTCACGCACATGTGTCCTGTGGTTATAGCTAGAAGGACAGGAGTCTCCTGCTGATGCG
TGATAGCTTAAGCTTGGGGAGAAGGTCTTTTCCACTGCCTAGCTAAGCAGTCTGGGGAGAGCAT
GGGGATCATTTCTATGTGTGTGGGTAATCTGGTCAGTAAGATTGAGACTTAGTTAAGATTCCCC
TTGGAAATTCCTTAATGTTTATTAGCTTCTAACTAGTGTTGTAAGTCCGATGCCAGAATTTGGA
GATTTGAGTTCTTCTTTTCATGGCTTTTATTCACTGTGACTAATAAGCTTCCTAATAAATCCTT
GCCAGACTTAA

hide sequence

RefSeq Acc Id:

XM_054337786 ⟹ XP_054193761

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	23,613,387 - 23,623,208 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_065095	(Get FASTA)	NCBI Sequence Viewer
	XP_011540106	(Get FASTA)	NCBI Sequence Viewer
	XP_054193761	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF91232	(Get FASTA)	NCBI Sequence Viewer
	AAG17266	(Get FASTA)	NCBI Sequence Viewer
	AAG44795	(Get FASTA)	NCBI Sequence Viewer
	AAH17208	(Get FASTA)	NCBI Sequence Viewer
	BAG35841	(Get FASTA)	NCBI Sequence Viewer
	BAG59259	(Get FASTA)	NCBI Sequence Viewer
	EAW95074	(Get FASTA)	NCBI Sequence Viewer
	EAW95075	(Get FASTA)	NCBI Sequence Viewer
	EAW95076	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000246151
	ENSP00000246151.4
	ENSP00000363648
	ENSP00000363648.1
	ENSP00000405957.1
GenBank Protein	Q9GZP4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_065095 ⟸ NM_020362
- UniProtKB:	Q5QPN7 (UniProtKB/Swiss-Prot), Q5QPN6 (UniProtKB/Swiss-Prot), B2R7J4 (UniProtKB/Swiss-Prot), Q9NRI8 (UniProtKB/Swiss-Prot), Q9GZP4 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSHGHSHGGGGCRCAAEREEPPEQRGLAYGLYLRIDLERLQCLNESREGSGRGVFKPWEERTDR SKFVESDADEELLFNIPFTGNVKLKGIIIMGEDDDSHPSEMRLYKNIPQMSFDDTEREPDQTFS LNRDLTGELEYATKISRFSNVYHLSIHISKNFGADTTKVFYIGLRGEWTELRRHEVTICNYEAS ANPADHRVHQVTPQTHFIS hide sequence

RefSeq Acc Id:	XP_011540106 ⟸ XM_011541804
- Peptide Label:	isoform X1
- UniProtKB:	B4DKP7 (UniProtKB/TrEMBL), X6R8S9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGEDDDSHPSEMRLYKNIPQMSFDDTEREPDQTFSLNRDLTGELEYATKISRFSNVYHLSIHIS KNFGADTTKVFYIGLRGEWTELRRHEVTICNYEASANPADHRVHQVTPQTHFIS hide sequence

RefSeq Acc Id:

ENSP00000363648 ⟸ ENST00000374524

RefSeq Acc Id:

ENSP00000405957 ⟸ ENST00000415372

RefSeq Acc Id:

ENSP00000246151 ⟸ ENST00000246151

RefSeq Acc Id:	XP_054193761 ⟸ XM_054337786
- Peptide Label:	isoform X1
- UniProtKB:	B4DKP7 (UniProtKB/TrEMBL)

Protein Domains

PITH

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9GZP4-F1-model_v2	AlphaFold	Q9GZP4	1-211	view protein structure

Promoters

RGD ID:

6854484

Promoter ID:

EPDNEW_H407

Type:

initiation region

Name:

PITHD1_1

Description:

PITH domain containing 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	23,778,418 - 23,778,478	EPDNEW

RGD ID:

6784747

Promoter ID:

HG_KWN:1333

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:

OTTHUMT00000008241, OTTHUMT00000008243

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	23,977,171 - 23,977,671 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25022	AgrOrtholog
COSMIC	PITHD1	COSMIC
Ensembl Genes	ENSG00000057757	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000246151	ENTREZGENE
	ENST00000246151.9	UniProtKB/Swiss-Prot
	ENST00000374524	ENTREZGENE
	ENST00000374524.1	UniProtKB/TrEMBL
	ENST00000415372.1	UniProtKB/TrEMBL
Gene3D-CATH	2.60.120.470	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000057757	GTEx
HGNC ID	HGNC:25022	ENTREZGENE
Human Proteome Map	PITHD1	Human Proteome Map
InterPro	Galactose-bd-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PITH1-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PITH_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PITH_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:57095	UniProtKB/Swiss-Prot
NCBI Gene	57095	ENTREZGENE
OMIM	618784	OMIM
PANTHER	PITH DOMAIN-CONTAINING PROTEIN 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR12175	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	PITH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142672446	PharmGKB
PROSITE	PITH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF49785	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B2R7J4	ENTREZGENE
	B4DKP7	ENTREZGENE, UniProtKB/TrEMBL
	PITH1_HUMAN	UniProtKB/Swiss-Prot
	Q5QPN6	ENTREZGENE
	Q5QPN7	ENTREZGENE
	Q9GZP4	ENTREZGENE
	Q9NRI8	ENTREZGENE
	X6R8S9	ENTREZGENE, UniProtKB/TrEMBL
	X6RHB9_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B2R7J4	UniProtKB/Swiss-Prot
	Q5QPN6	UniProtKB/Swiss-Prot
	Q5QPN7	UniProtKB/Swiss-Prot
	Q9NRI8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-12	PITHD1	PITH domain containing 1		PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	Symbol and/or name change	5135510	APPROVED
2011-07-27	PITHD1	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	C1orf128	chromosome 1 open reading frame 128	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)

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Imported Disease Annotations - ClinVar