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    SHCBP1L SHC binding and spindle associated 1 like [ Homo sapiens (human) ]

    Gene ID: 81626, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SHCBP1Lprovided by HGNC
    Official Full Name
    SHC binding and spindle associated 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:16788
    See related
    Ensembl:ENSG00000157060 MIM:619514; AllianceGenome:HGNC:16788
    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
    GE36; C1orf14
    Summary
    This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]
    Expression
    Restricted expression toward testis (RPKM 73.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See SHCBP1L in Genome Data Viewer
    Location:
    1q25.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (182899865..182953166, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (182259032..182312340, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182869000..182922301, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:182758561-182759061 Neighboring gene N-acetylneuraminate pyruvate lyase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2208 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182808107-182808948 Neighboring gene DHX9 antisense RNA 1 Neighboring gene DExH-box helicase 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1622 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 4 Neighboring gene RNA, 5S ribosomal pseudogene 71 Neighboring gene natural cytotoxicity triggering receptor 1 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182926694-182927204 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182927205-182927716 Neighboring gene keratin 18 pseudogene 28

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. SHCBP1L, a conserved protein in mammals, is predominantly expressed in male germ cells and maintains spindle stability during meiosis in testis. Liu M, et al. Mol Hum Reprod, 2014 Jun. PMID 24557841
    2. Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. Sood R, et al. Genomics, 2001 Apr 15. PMID 11318611
    3. Interactome of the negative regulator of nuclear import BRCA1-binding protein 2. Fatima S, et al. Sci Rep, 2015 Mar 30. PMID 25820252, Free PMC Article
    4. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article
    5. In silico APC/C substrate discovery reveals cell cycle-dependent degradation of UHRF1 and other chromatin regulators. Franks JL, et al. PLoS Biol, 2020 Dec. PMID 33306668, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SHCBP1L is a conserved mammalian protein predominantly expressed in male germ cells and it maintains spindle stability during meiosis in testis.
      Title: SHCBP1L, a conserved protein in mammals, is predominantly expressed in male germ cells and maintains spindle stability during meiosis in testis.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26911, MGC48296

    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 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male meiosis cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of chromosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in meiotic spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in meiotic spindle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    testicular spindle-associated protein SHCBP1L
    Names
    SHC SH2 domain-binding protein 1-like protein
    SHC SH2-domain binding protein 1-like

    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

    1. NG_051596.1 RefSeqGene

      Range
      5360..58661
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001345928.2 → NP_001332857.1  testicular spindle-associated protein SHCBP1L isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR and 5' coding region which results in the use of an alternate start codon compared to variant 1.
      Source sequence(s)
      AF288397, AL450304, AL662837, BC026084
      UniProtKB/Swiss-Prot
      Q9BZQ2
      Related
      ENST00000483655.5

    2. NM_030933.4 → NP_112195.2  testicular spindle-associated protein SHCBP1L isoform 1

      See identical proteins and their annotated locations for NP_112195.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF288398, AL450304, AL662837, BC050305
      Consensus CDS
      CCDS30955.1
      UniProtKB/Swiss-Prot
      Q4G195, Q9BZQ2, Q9BZQ3, Q9H2B6
      Related
      ENSP00000356518.3, ENST00000367547.8
      Conserved Domains (1) summary
      pfam13229
      Location:486 → 653
      Beta_helix; Right handed beta helix region

    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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      182899865..182953166 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      182259032..182312340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZQ2.3 GenPept UniProtKB/Swiss-Prot:Q9BZQ2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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