GPRASP3 G protein-coupled receptor associated sorting protein family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPRASP3provided by HGNC
Official Full Name: G protein-coupled receptor associated sorting protein family member 3provided by HGNC
Primary source: HGNC:HGNC:29353
See related: Ensembl:ENSG00000198908 MIM:300921; AllianceGenome:HGNC:29353
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: GASP3; BHLHB9; p60TRP
Summary: This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
Expression: Ubiquitous expression in brain (RPKM 7.7), ovary (RPKM 2.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (102720743..102753540)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (101165692..101198489)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (101975671..102008468)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Report that some regions of p60TRP were more prone to specific mutations, with two hotspots for mutations at E15 and E171.
Title: Glutamate E15 and E171 are Hotspots in p60TRP-Related Cancer.
Down-regulation in the brain of Alzheimer's disease subjects point to a possible pivotal role of p60TRP in the control of cellular aging and survival.
Title: Characterizing the new transcription regulator protein p60TRP.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

RH78520 (e-PCR)
- UniSTS:73812

DXS7007E (e-PCR)
- UniSTS:87907

RH80031 (e-PCR)
- UniSTS:91103

SHGC-143390 (e-PCR)
- UniSTS:185057

A008N06 (e-PCR)
- UniSTS:69104

Readthrough ARMCX5-GPRASP2

Readthrough gene: ARMCX5-GPRASP2, Included gene: GPRASP1, Included gene: ARMCX5, Included gene: GPRASP2, Included gene: LINC00630

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in learning or memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dendritic spine morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synapse assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: G protein-coupled receptor associated sorting protein 3

Names: basic helix-loop-helix domain containing, class B, 9; basic helix-loop-helix family member b9; p60-like protein; p60-transcription-regulator-protein; protein BHLHB9; transcription regulator of 60 kDa

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_021340.1 RefSeqGene

Range

5030..37827

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142524.2 → NP_001135996.1 G protein-coupled receptor associated sorting protein 3

See identical proteins and their annotated locations for NP_001135996.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1-8 encode the same protein.

Source sequence(s)

AB051488, AL035427, BC041409, DA104939

UniProtKB/Swiss-Prot

Q6PI77, Q9C0G2

Related

ENSP00000403226.1, ENST00000457056.6

Conserved Domains (1) summary

pfam04826
Location:314 → 542

Arm_2; Armadillo-like
NM_001142525.2 → NP_001135997.1 G protein-coupled receptor associated sorting protein 3

See identical proteins and their annotated locations for NP_001135997.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.

Source sequence(s)

AB051488, AL035427, BC041409, DA397309

UniProtKB/Swiss-Prot

Q6PI77, Q9C0G2

Conserved Domains (1) summary

pfam04826
Location:314 → 542

Arm_2; Armadillo-like
NM_001142526.2 → NP_001135998.1 G protein-coupled receptor associated sorting protein 3

See identical proteins and their annotated locations for NP_001135998.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.

Source sequence(s)

AB051488, AL035427, BC041409, DA397309, DA398982

UniProtKB/Swiss-Prot

Q6PI77, Q9C0G2

Conserved Domains (1) summary

pfam04826
Location:314 → 542

Arm_2; Armadillo-like
NM_001142527.2 → NP_001135999.1 G protein-coupled receptor associated sorting protein 3

See identical proteins and their annotated locations for NP_001135999.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.

Source sequence(s)

AB051488, AL035427, BC041409, DA718424

UniProtKB/Swiss-Prot

Q6PI77, Q9C0G2

Conserved Domains (1) summary

pfam04826
Location:314 → 542

Arm_2; Armadillo-like
NM_001142528.2 → NP_001136000.1 G protein-coupled receptor associated sorting protein 3

See identical proteins and their annotated locations for NP_001136000.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.

Source sequence(s)

AB051488, AL035427, BC041409, DA211842, DA397309

UniProtKB/Swiss-Prot

Q6PI77, Q9C0G2

Conserved Domains (1) summary

pfam04826
Location:314 → 542

Arm_2; Armadillo-like
NM_001142529.1 → NP_001136001.1 G protein-coupled receptor associated sorting protein 3

See identical proteins and their annotated locations for NP_001136001.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.

Source sequence(s)

AB051488, BC041409, DA218716, DA326404

UniProtKB/Swiss-Prot

Q6PI77, Q9C0G2

Related

ENSP00000405893.1, ENST00000447531.5

Conserved Domains (1) summary

pfam04826
Location:314 → 542

Arm_2; Armadillo-like
NM_001142530.1 → NP_001136002.1 G protein-coupled receptor associated sorting protein 3

See identical proteins and their annotated locations for NP_001136002.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.

Source sequence(s)

AB051488, BC041409, DA326404, DA494496

UniProtKB/Swiss-Prot

Q6PI77, Q9C0G2

Related

ENSP00000391722.1, ENST00000448867.1

Conserved Domains (1) summary

pfam04826
Location:314 → 542

Arm_2; Armadillo-like
NM_030639.3 → NP_085142.1 G protein-coupled receptor associated sorting protein 3

See identical proteins and their annotated locations for NP_085142.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.

Source sequence(s)

AB051488, AL035427, BC041409

UniProtKB/Swiss-Prot

Q6PI77, Q9C0G2

Related

ENSP00000354675.4, ENST00000361229.8

Conserved Domains (1) summary

pfam04826
Location:314 → 542

Arm_2; Armadillo-like