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SCHIP1 schwannomin interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 29970, updated on 13-Mar-2020

Summary

Official Symbol
SCHIP1provided by HGNC
Official Full Name
schwannomin interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:15678
See related
Ensembl:ENSG00000151967 Ensembl:ENSG00000283154
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
SCHIP-1
Expression
Biased expression in brain (RPKM 38.6), heart (RPKM 21.8) and 13 other tissues See more
Orthologs

Genomic context

See SCHIP1 in Genome Data Viewer
Location:
3q25.32-q25.33
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (159273247..159897366)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (158991036..159615155)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374181 Neighboring gene IQCJ-SCHIP1 readthrough Neighboring gene IQ motif containing J Neighboring gene microRNA 3919 Neighboring gene ribosomal protein S2 pseudogene 19 Neighboring gene IQCJ-SCHIP1 readthrough antisense RNA 1 Neighboring gene chromosome 9 open reading frame 78 pseudogene Neighboring gene uncharacterized LOC101928351 Neighboring gene RNA, U2 small nuclear 31, pseudogene Neighboring gene IL12A antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 1100 Neighboring gene interleukin 12A

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
NHGRI GWA Catalog
Newly identified genetic risk variants for celiac disease related to the immune response.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough IQCJ-SCHIP1

Readthrough gene: IQCJ-SCHIP1, Included gene: IQCJ

Homology

Clone Names

  • FLJ39160

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
schwannomin-interacting protein 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_001197107.1NP_001184036.1  schwannomin-interacting protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001184036.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2, also known as SCHIP-1-D241/253) that is shorter than isoform 1.
    Source sequence(s)
    AF145715, BC036535, CA431197
    Consensus CDS
    CCDS56292.1
    UniProtKB/Swiss-Prot
    P0DPB3
    Related
    ENSP00000400942.2, ENST00000412423.8
    Conserved Domains (1) summary
    pfam10148
    Location:242468
    SCHIP-1; Schwannomin-interacting protein 1
  2. NM_001197108.1NP_001184037.1  schwannomin-interacting protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001184037.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (3, also known as SCHIP-1-D22/253) that is shorter than isoform 1.
    Source sequence(s)
    AF145714, BC036535, CA431197
    Consensus CDS
    CCDS56293.1
    UniProtKB/Swiss-Prot
    P0DPB3
    Related
    ENSP00000436076.1, ENST00000527095.7
    Conserved Domains (1) summary
    pfam10148
    Location:23249
    SCHIP-1; Schwannomin-interacting protein 1
  3. NM_001197109.1NP_001184038.1  schwannomin-interacting protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001184038.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct and shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK091871, CA431197, DB466706
    Consensus CDS
    CCDS56294.1
    UniProtKB/Swiss-Prot
    P0DPB3
    Related
    ENSP00000404860.2, ENST00000445224.6
    Conserved Domains (1) summary
    pfam10148
    Location:12238
    SCHIP-1; Schwannomin-interacting protein 1
  4. NM_014575.3NP_055390.1  schwannomin-interacting protein 1 isoform 1

    See identical proteins and their annotated locations for NP_055390.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF145713, BC036535, CA431197
    Consensus CDS
    CCDS3186.1
    UniProtKB/Swiss-Prot
    P0DPB3
    Related
    ENSP00000491030.1, ENST00000638749.1
    Conserved Domains (1) summary
    pfam10148
    Location:255481
    SCHIP-1; Schwannomin-interacting protein 1

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    159273247..159897366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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