EIPR1 EARP complex and GARP complex interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EIPR1provided by HGNC
Official Full Name: EARP complex and GARP complex interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:12383
See related: Ensembl:ENSG00000032389 MIM:608998; AllianceGenome:HGNC:12383
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TSSC1; EIPR-1
Summary: This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]
Expression: Ubiquitous expression in thyroid (RPKM 8.8), brain (RPKM 8.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p25.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (3188970..3377818, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (3210031..3399939, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (3192741..3381589, complement)

Chromosome 2 - NC_000002.12 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: 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?

Allele-specific DNA methylation maps in monozygotic twins discordant for psychiatric disorders reveal that disease-associated switching at the EIPR1 regulatory loci modulates neural function.
Title: Allele-specific DNA methylation maps in monozygotic twins discordant for psychiatric disorders reveal that disease-associated switching at the EIPR1 regulatory loci modulates neural function.
Fluorescence recovery after photobleaching shows that TSSC1 is required for efficient recruitment of GARP to the TGN. These studies thus demonstrate that TSSC1 plays a critical role in endosomal retrieval pathways as a regulator of both GARP and EARP function.
Title: TSSC1 is novel component of the endosomal retrieval machinery.
TSSC1 inhibits breast cancer cell invasion. Subsequently, TSSC1 is confirmed as a target of Runx2 and is negatively regulated by Runx2.
Title: Runx2 induces bone osteolysis by transcriptional suppression of TSSC1.

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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

AFMB316YF9 (e-PCR)
- UniSTS:16197

D2S2891 (e-PCR)
- UniSTS:50267

G62029 (e-PCR)
- UniSTS:139118

RH11737 (e-PCR)
- UniSTS:1456

RH102869 (e-PCR)
- UniSTS:97203

A002Q11 (e-PCR)
- UniSTS:67799

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytic recycling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of endocytic recycling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of retrograde transport, endosome to Golgi	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of EARP complex	IDA Inferred from Direct Assay more info	PubMed
part_of GARP complex	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: EARP and GARP complex-interacting protein 1

Names: EARP-interacting protein; Golgi-associated retrograde protein-interacting protein; endosome-associated recycling protein-interacting protein; protein TSSC1; tumor suppressing subtransferable candidate 1; tumor-suppressing STF cDNA 1 protein; tumor-suppressing subchromosomal transferable fragment candidate gene 1 protein; tumor-suppressing subtransferable fragment candidate gene 1

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.

mRNA and Protein(s)

NM_001330530.3 → NP_001317459.1 EARP and GARP complex-interacting protein 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC019118, AC073502

Consensus CDS

CCDS82416.1

UniProtKB/TrEMBL

A8MUM1

Related

ENSP00000381652.4, ENST00000398659.8

Conserved Domains (3) summary

COG2319
Location:166 → 401

WD40; WD40 repeat [General function prediction only]

sd00039
Location:165 → 201

7WD40; WD40 repeat [structural motif]

cl02567
Location:166 → 401

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001330531.3 → NP_001317460.1 EARP and GARP complex-interacting protein 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two exons and initiates translation from a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.

Source sequence(s)

AC019118, AC073502

Conserved Domains (2) summary

sd00039
Location:44 → 80

7WD40; WD40 repeat [structural motif]

cl25539
Location:3 → 226

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_003310.5 → NP_003301.1 EARP and GARP complex-interacting protein 1 isoform 2

See identical proteins and their annotated locations for NP_003301.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC019118, AK026522, BC002485, HY008956

Consensus CDS

CCDS1651.1

UniProtKB/Swiss-Prot

D6W4Y1, O43179, Q53HC9, Q53S19, Q53SG2

Related

ENSP00000371559.4, ENST00000382125.9

Conserved Domains (2) summary

sd00039
Location:138 → 174

7WD40; WD40 repeat [structural motif]

cl25539
Location:139 → 370

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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_000002.12 Reference GRCh38.p14 Primary Assembly

Range

3188970..3377818 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011510383.4 → XP_011508685.1 EARP and GARP complex-interacting protein 1 isoform X1

Conserved Domains (2) summary

sd00039
Location:177 → 213

7WD40; WD40 repeat [structural motif]

cl29593
Location:178 → 413

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_011510385.3 → XP_011508687.1 EARP and GARP complex-interacting protein 1 isoform X2

Conserved Domains (2) summary

sd00039
Location:150 → 186

7WD40; WD40 repeat [structural motif]

cl29593
Location:151 → 382

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_006711893.3 → XP_006711956.1 EARP and GARP complex-interacting protein 1 isoform X3

Conserved Domains (2) summary

sd00039
Location:38 → 74

7WD40; WD40 repeat [structural motif]

cl29593
Location:39 → 270

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

3210031..3399939 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343651.1 → XP_054199626.1 EARP and GARP complex-interacting protein 1 isoform X1
XM_054343652.1 → XP_054199627.1 EARP and GARP complex-interacting protein 1 isoform X2
XM_054343653.1 → XP_054199628.1 EARP and GARP complex-interacting protein 1 isoform X3