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    SPIN1 spindlin 1 [ Homo sapiens (human) ]

    Gene ID: 10927, updated on 3-Nov-2024

    Summary

    Official Symbol
    SPIN1provided by HGNC
    Official Full Name
    spindlin 1provided by HGNC
    Primary source
    HGNC:HGNC:11243
    See related
    Ensembl:ENSG00000106723 MIM:609936; AllianceGenome:HGNC:11243
    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
    SPIN; TDRD24
    Summary
    Enables methylated histone binding activity. Involved in positive regulation of DNA-templated transcription; positive regulation of Wnt signaling pathway; and rRNA transcription. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 40.9), brain (RPKM 36.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SPIN1 in Genome Data Viewer
    Location:
    9q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (88388444..88478694)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (100542547..100632795)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (91003359..91093609)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:90953681-90954540 Neighboring gene ribosomal protein SA pseudogene 49 Neighboring gene uncharacterized LOC124902359 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:90993210-90994206 Neighboring gene uncharacterized LOC124902204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:91002175-91003034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:91010312-91010812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:91010813-91011313 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 14 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:91033322-91034521 Neighboring gene NANOG hESC enhancer GRCh37_chr9:91044914-91045415 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:91058145-91058846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:91110399-91110940 Neighboring gene ribosomal protein L21 pseudogene 85 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:91134584-91135288 Neighboring gene uncharacterized LOC105376134

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: LAT

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables methylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gamete generation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in rRNA transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    spindlin-1
    Names
    ovarian cancer-related protein
    spindlin1

    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_006717.3NP_006708.2  spindlin-1

      See identical proteins and their annotated locations for NP_006708.2

      Status: VALIDATED

      Source sequence(s)
      AF087864, AL353748, DB465491
      Consensus CDS
      CCDS43843.1
      UniProtKB/Swiss-Prot
      A8K0X6, B3KRQ4, Q7KZJ8, Q9GZT2, Q9H0N7, Q9Y657
      Related
      ENSP00000365019.3, ENST00000375859.4
      Conserved Domains (1) summary
      pfam02513
      Location:54102
      Spin-Ssty; Spin/Ssty Family

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      88388444..88478694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      100542547..100632795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)