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SKA3 spindle and kinetochore associated complex subunit 3 [ Homo sapiens (human) ]

Gene ID: 221150, updated on 3-Jun-2018
Official Symbol
SKA3provided by HGNC
Official Full Name
spindle and kinetochore associated complex subunit 3provided by HGNC
Primary source
HGNC:HGNC:20262
See related
Ensembl:ENSG00000165480 Vega:OTTHUMG00000016539
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
RAMA1; C13orf3
Summary
This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Expression
Biased expression in testis (RPKM 4.8), bone marrow (RPKM 3.0) and 13 other tissues See more
Orthologs
See SKA3 in Genome Data Viewer
Location:
13q12.11
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (21153595..21176602, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (21727734..21750741, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene inositol 1,3,4,5,6-pentakisphosphate 2-kinase pseudogene 1 Neighboring gene Sin3A associated protein 18 Neighboring gene mitochondrial ribosomal protein L57 Neighboring gene long intergenic non-protein coding RNA 1046 Neighboring gene uncharacterized LOC105370105 Neighboring gene estrogen-related receptor alpha pseudogene 2

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC4832

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of microtubule polymerization or depolymerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
condensed chromosome outer kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
condensed chromosome outer kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
spindle microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spindle microtubule IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
spindle and kinetochore-associated protein 3

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_001166017.1NP_001159489.1  spindle and kinetochore-associated protein 3 isoform 2

    See identical proteins and their annotated locations for NP_001159489.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and alternate stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF361358, AK090584, AL158032
    Consensus CDS
    CCDS53856.1
    UniProtKB/Swiss-Prot
    Q8IX90
    Related
    ENSP00000382896.3, OTTHUMP00000176879, ENST00000400018.7, OTTHUMT00000272913
    Conserved Domains (1) summary
    cd12957
    Location:3101
    SKA3_N; Spindle and kinetochore-associated protein 3, N-terminal domain
  2. NM_145061.5NP_659498.4  spindle and kinetochore-associated protein 3 isoform 1

    See identical proteins and their annotated locations for NP_659498.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF361358, AL158032
    Consensus CDS
    CCDS31946.1
    UniProtKB/Swiss-Prot
    Q8IX90
    Related
    ENSP00000319417.5, OTTHUMP00000176878, ENST00000314759.5, OTTHUMT00000272912
    Conserved Domains (1) summary
    cd12957
    Location:3101
    SKA3_N; Spindle and kinetochore-associated protein 3, N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    21153595..21176602 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266288.4XP_005266345.1  spindle and kinetochore-associated protein 3 isoform X2

    See identical proteins and their annotated locations for XP_005266345.1

    UniProtKB/Swiss-Prot
    Q8IX90
    Conserved Domains (1) summary
    cd12957
    Location:119
    SKA3_N; Spindle and kinetochore-associated protein 3, N-terminal domain
  2. XM_011534994.2XP_011533296.1  spindle and kinetochore-associated protein 3 isoform X1

    Conserved Domains (1) summary
    cd12957
    Location:161
    SKA3_N; Spindle and kinetochore-associated protein 3, N-terminal domain
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