PASD1 PAS domain containing repressor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PASD1provided by HGNC
Official Full Name: PAS domain containing repressor 1provided by HGNC
Primary source: HGNC:HGNC:20686
See related: Ensembl:ENSG00000166049 MIM:300993; AllianceGenome:HGNC:20686
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CT63; CT64; OXTES1
Summary: This gene encodes a protein that is thought to function as a transcription factor. The protein is a cancer-associated antigen that can stimulate autologous T-cell responses, and it is therefore considered to be a potential immunotherapeutic target for the treatment of various hematopoietic malignancies, including diffuse large B-cell lymphoma. [provided by RefSeq, May 2010]
Expression: Restricted expression toward testis (RPKM 11.6) See more
Orthologs: all
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Genomic context

Location:: Xq28

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (151563675..151676739)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (149831967..149945045)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (150732147..150845211)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gene and protein expressions of PASD1 were detected in 20% and 17.3% of colorectal cancer samples, respectively. PASD1(4) peptide was shown to be immunogenic in colorectal cancer samples.
Title: Validation of immunogenic PASD1 peptides against HLA-A*24:02 colorectal cancer.
Findings suggested that PASD1 expression in glioma patients was extremely upregulated compared with that in normal tissue samples and cell lines.
Title: PAS Domain Containing Repressor 1 (PASD1) Promotes Glioma Cell Proliferation Through Inhibiting Apoptosis In Vitro.
PASD1 serves as a critical nuclear positive regulator of STAT3-mediated gene expression and tumorigenesis.
Title: PASD1 promotes STAT3 activity and tumor growth by inhibiting TC45-mediated dephosphorylation of STAT3 in the nucleus.
PASD1 is a circadian bHLH-PAS paralog repressor of CLOCK protein expression.
Title: Cancer/Testis Antigen PASD1 Silences the Circadian Clock.
PASD1-derived epitopes are both efficiently and selectively processed and presented by native human multiple myeloma cells as cancer vaccines.
Title: DNA vaccines to target the cancer testis antigen PASD1 in human multiple myeloma.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-154179 (e-PCR)
- UniSTS:185098

HSC268_(Di92) (e-PCR)
- UniSTS:273735

SHGC-83595 (e-PCR)
- UniSTS:100945

SHGC-154220 (e-PCR)
- UniSTS:178023

SHGC-106509 (e-PCR)
- UniSTS:185031

c03503sbk (e-PCR)
- UniSTS:96243

SHGC-147385 (e-PCR)
- UniSTS:172794

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription regulator inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in circadian regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of circadian rhythm	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of circadian rhythm	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of CLOCK-BMAL transcription complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cry-Per complex	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: circadian clock protein PASD1

Names: PAS domain containing 1; cancer/testis antigen 63

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021218.1 RefSeqGene

Range

5141..118205

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_173493.3 → NP_775764.2 circadian clock protein PASD1

See identical proteins and their annotated locations for NP_775764.2

Status: REVIEWED

Source sequence(s)

AF274854, AK097552, BC040301, DB523527

Consensus CDS

CCDS35431.1

UniProtKB/Swiss-Prot

Q3MNE0, Q69HD7, Q8IV76, Q8N7X9

Related

ENSP00000359382.4, ENST00000370357.5

Conserved Domains (1) summary

cd00130
Location:41 → 137

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

151563675..151676739

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011531102.3 → XP_011529404.1 circadian clock protein PASD1 isoform X1

Conserved Domains (2) summary

cd00130
Location:41 → 137

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam00989
Location:32 → 137

PAS; PAS fold