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

    Gene ID: 29970, updated on 17-Jun-2024

    Summary

    Official Symbol
    SCHIP1provided by HGNC
    Official Full Name
    schwannomin interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:15678
    See related
    Ensembl:ENSG00000151967 MIM:619206; AllianceGenome:HGNC:15678
    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
    Summary
    Enables identical protein binding activity. Predicted to be involved in positive regulation of hippo signaling. Predicted to act upstream of or within several processes, including animal organ development; face morphogenesis; and fibroblast migration. Located in several cellular components, including cell junction; cytosol; and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 38.6), heart (RPKM 21.8) and 13 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SCHIP1 in Genome Data Viewer
    Location:
    3q25.32-q25.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (159273244..159897359)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (162047599..162671965)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (158991033..159615148)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909452 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:158654234-158655433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:158708772-158709358 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:158770193-158770383 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:158780440-158780973 Neighboring gene IQCJ-SCHIP1 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20753 Neighboring gene IQ motif containing J Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:158946859-158947462 Neighboring gene MPRA-validated peak4886 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr3:159058830-159059398 Neighboring gene microRNA 3919 Neighboring gene ribosomal protein S2 pseudogene 19 Neighboring gene NANOG hESC enhancer GRCh37_chr3:159349871-159350381 Neighboring gene IQCJ-SCHIP1 readthrough antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14850 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:159481881-159482458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14851 Neighboring gene C9orf78 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:159492749-159493294 Neighboring gene uncharacterized LOC101928351 Neighboring gene uncharacterized LOC124906299 Neighboring gene Sharpr-MPRA regulatory region 8585 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:159589810-159591009 Neighboring gene RNA, U2 small nuclear 31, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20755 Neighboring gene IL12A antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:159704282-159705481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:159706332-159706832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:159706833-159707333 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough IQCJ-SCHIP1

    Readthrough gene: IQCJ-SCHIP1, Included gene: IQCJ

    Clone Names

    • FLJ39160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of hippo signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    schwannomin-interacting protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001197107.2NP_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)
      AC107312, AF145715, BC036535, CA431197
      Consensus CDS
      CCDS56292.1
      UniProtKB/TrEMBL
      B2RBH3
      Related
      ENSP00000400942.2, ENST00000412423.8
      Conserved Domains (1) summary
      pfam10148
      Location:242468
      SCHIP-1; Schwannomin-interacting protein 1
    2. NM_001197108.2NP_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)
      AC107312, 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_001197109.2NP_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
      Consensus CDS
      CCDS56294.1
      UniProtKB/Swiss-Prot
      P0DPB3
      Related
      ENSP00000404860.2, ENST00000445224.6
      Conserved Domains (1) summary
      pfam10148
      Location:12235
      SCHIP-1; Schwannomin-interacting protein 1
    4. NM_001394282.1NP_001381211.1  schwannomin-interacting protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC021654
      Consensus CDS
      CCDS93418.1
      UniProtKB/TrEMBL
      A0A8I5KTZ3, B2RBH3
      Conserved Domains (1) summary
      pfam10148
      Location:228451
      SCHIP-1; Schwannomin-interacting protein 1
    5. NM_001394283.1NP_001381212.1  schwannomin-interacting protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC021654
      Consensus CDS
      CCDS93418.1
      UniProtKB/TrEMBL
      A0A8I5KTZ3, B2RBH3
      Conserved Domains (1) summary
      pfam10148
      Location:228451
      SCHIP-1; Schwannomin-interacting protein 1
    6. NM_001394284.1NP_001381213.1  schwannomin-interacting protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC021654, AC092943
      Consensus CDS
      CCDS93418.1
      UniProtKB/TrEMBL
      A0A8I5KTZ3, B2RBH3
      Conserved Domains (1) summary
      pfam10148
      Location:228451
      SCHIP-1; Schwannomin-interacting protein 1
    7. NM_001394285.1NP_001381214.1  schwannomin-interacting protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC021654, AC092943
      Consensus CDS
      CCDS93418.1
      UniProtKB/TrEMBL
      A0A8I5KTZ3, B2RBH3
      Related
      ENSP00000508586.1, ENST00000689690.1
      Conserved Domains (1) summary
      pfam10148
      Location:228451
      SCHIP-1; Schwannomin-interacting protein 1
    8. NM_001394286.1NP_001381215.1  schwannomin-interacting protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC021654, AC092943
      Consensus CDS
      CCDS93418.1
      UniProtKB/TrEMBL
      A0A8I5KTZ3, B2RBH3
      Conserved Domains (1) summary
      pfam10148
      Location:228451
      SCHIP-1; Schwannomin-interacting protein 1
    9. NM_001394287.1NP_001381216.1  schwannomin-interacting protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC021654
      UniProtKB/TrEMBL
      C9J366
      Related
      ENSP00000417305.3, ENST00000460298.3
    10. NM_001394288.1NP_001381217.1  schwannomin-interacting protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC021654
      UniProtKB/TrEMBL
      C9J366
    11. NM_001394289.1NP_001381218.1  schwannomin-interacting protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC021654
      UniProtKB/TrEMBL
      C9J366
    12. NM_001394290.1NP_001381219.1  schwannomin-interacting protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC021654, AC092943
      UniProtKB/TrEMBL
      C9J366
    13. NM_001394291.1NP_001381220.1  schwannomin-interacting protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC021654, AC092943
      UniProtKB/TrEMBL
      C9J366
    14. NM_001394292.1NP_001381221.1  schwannomin-interacting protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC021654
    15. NM_001394293.1NP_001381222.1  schwannomin-interacting protein 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC021654
      UniProtKB/TrEMBL
      B2RBH3
    16. NM_001394294.1NP_001381223.1  schwannomin-interacting protein 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC021654
      Consensus CDS
      CCDS93419.1
      UniProtKB/TrEMBL
      C9JWG6
      Related
      ENSP00000419230.1, ENST00000482804.1
      Conserved Domains (1) summary
      pfam10148
      Location:28251
      SCHIP-1; Schwannomin-interacting protein 1
    17. NM_001394295.1NP_001381224.1  schwannomin-interacting protein 1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC021654
    18. NM_001394296.1NP_001381225.1  schwannomin-interacting protein 1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC021654
    19. NM_001414415.1NP_001401344.1  schwannomin-interacting protein 1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC021654
      UniProtKB/TrEMBL
      B2RBH3
    20. NM_001414416.1NP_001401345.1  schwannomin-interacting protein 1 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC021654
      UniProtKB/TrEMBL
      B2RBH3
    21. NM_001414417.1NP_001401346.1  schwannomin-interacting protein 1 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC021654
      UniProtKB/TrEMBL
      B2RBH3
    22. NM_001414418.1NP_001401347.1  schwannomin-interacting protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC021654
      UniProtKB/TrEMBL
      A0A8I5KTZ3, B2RBH3
    23. NM_001414419.1NP_001401348.1  schwannomin-interacting protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC021654
      UniProtKB/TrEMBL
      A0A8I5KTZ3, B2RBH3
    24. NM_001414420.1NP_001401349.1  schwannomin-interacting protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC021654, AC092943
      UniProtKB/TrEMBL
      C9J366
    25. NM_001414421.1NP_001401350.1  schwannomin-interacting protein 1 isoform 19

      Status: VALIDATED

      Source sequence(s)
      AC021654
      UniProtKB/TrEMBL
      C9J366
    26. NM_001414422.1NP_001401351.1  schwannomin-interacting protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC021654
      UniProtKB/TrEMBL
      C9J366
    27. NM_001414423.1NP_001401352.1  schwannomin-interacting protein 1 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC021654
    28. NM_001414424.1NP_001401353.1  schwannomin-interacting protein 1 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC021654
    29. NM_001414425.1NP_001401354.1  schwannomin-interacting protein 1 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC021654
    30. NM_001414426.1NP_001401355.1  schwannomin-interacting protein 1 isoform 18

      Status: VALIDATED

      Source sequence(s)
      AC021654
    31. NM_014575.4NP_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)
      AC107312, AF145713, BC036535, CA431197
      Consensus CDS
      CCDS3186.1
      UniProtKB/Swiss-Prot
      P0DPB3
      UniProtKB/TrEMBL
      B2RBH3
      Related
      ENSP00000491030.1, ENST00000638749.2
      Conserved Domains (1) summary
      pfam10148
      Location:255481
      SCHIP-1; Schwannomin-interacting protein 1

    RNA

    1. NR_182428.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC021654
    2. NR_182429.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC021654

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      159273244..159897359
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      162047599..162671965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)