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

Gene ID: 7260, updated on 1-Jun-2020

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
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

Genomic context

See EIPR1 in Genome Data Viewer
Location:
2p25.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (3188925..3377818, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (3192741..3381653, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1250 Neighboring gene uncharacterized LOC107985840 Neighboring gene Sharpr-MPRA regulatory region 3808 Neighboring gene VISTA enhancer hs1385 Neighboring gene trafficking protein particle complex 12 Neighboring gene uncharacterized LOC112268321

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
positive regulation of endocytic recycling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of retrograde transport, endosome to Golgi IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with EARP complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with GARP complex IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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)

  1. NM_001330530.2NP_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:166401
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:165201
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:166401
    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 ...
  2. NM_001330531.2NP_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:4480
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:3226
    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 ...
  3. NM_003310.5NP_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
    Q53HC9
    Related
    ENSP00000371559.4, ENST00000382125.8
    Conserved Domains (2) summary
    sd00039
    Location:138174
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:139370
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    3188925..3377818 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510383.3XP_011508685.1  EARP and GARP complex-interacting protein 1 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:178413
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:177213
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:178413
    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 ...
  2. XM_006711893.2XP_006711956.1  EARP and GARP complex-interacting protein 1 isoform X3

    Conserved Domains (2) summary
    sd00039
    Location:3874
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:39270
    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 ...
  3. XM_011510385.2XP_011508687.1  EARP and GARP complex-interacting protein 1 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:151386
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:150186
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:151382
    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 ...
  4. XM_017004818.2XP_016860307.1  EARP and GARP complex-interacting protein 1 isoform X3

    Conserved Domains (2) summary
    sd00039
    Location:3874
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:39270
    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 ...
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