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SPIN1 spindlin 1 [ Homo sapiens (human) ]

Gene ID: 10927, updated on 17-Jun-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 Wnt signaling pathway; positive regulation of transcription, DNA-templated; and rRNA transcription. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in endometrium (RPKM 40.9), brain (RPKM 36.4) and 25 other tissues See more
Orthologs
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Genomic context

See SPIN1 in Genome Data Viewer
Location:
9q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (88388444..88478694)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (100542547..100632795)
105.20220307 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
  • 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)

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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.

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_2023_10

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)