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SASS6 SAS-6 centriolar assembly protein [ Homo sapiens (human) ]

Gene ID: 163786, updated on 26-May-2016
Official Symbol
SASS6provided by HGNC
Official Full Name
SAS-6 centriolar assembly proteinprovided by HGNC
Primary source
HGNC:HGNC:25403
See related
Ensembl:ENSG00000156876 HPRD:10907; MIM:609321; Vega:OTTHUMG00000010754
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
SAS6; SAS-6; MCPH14
Summary
SAS6 is necessary for centrosome duplication and functions during procentriole formation; SAS6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle Strnad et al., (2007) [PubMed 17681132].[supplied by OMIM, Mar 2008]
Orthologs
Location:
1p21.2
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (100083544..100133095, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100549100..100598518, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101930120 Neighboring gene solute carrier family 35 member A3 Neighboring gene major facilitator superfamily domain containing 14A Neighboring gene tRNA methyltransferase 13 homolog Neighboring gene leucine rich repeat containing 39 Neighboring gene dihydrolipoamide branched chain transacylase E2 Neighboring gene brain protein I3 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22097, MGC119440

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
centriole replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
centrosome duplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
centrosome NAS
Non-traceable Author Statement
more info
PubMed 
deuterosome ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
spindle assembly abnormal protein 6 homolog
Names
hsSAS-6
spindle assembly 6 homolog

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_001304829.1NP_001291758.1  spindle assembly abnormal protein 6 homolog isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon at the 5' end compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (2) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AY359522, BC101026, BX113339, DC400869
    UniProtKB/Swiss-Prot
    Q6UVJ0
    UniProtKB/TrEMBL
    Q495U0
    Conserved Domains (1) summary
    pfam07851
    Location:253313
    TMPIT; TMPIT-like protein
  2. NM_194292.2NP_919268.1  spindle assembly abnormal protein 6 homolog isoform 1

    See identical proteins and their annotated locations for NP_919268.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AY359522, BX113339, DC400869
    Consensus CDS
    CCDS764.1
    UniProtKB/Swiss-Prot
    Q6UVJ0
    Related
    ENSP00000287482, OTTHUMP00000012455, ENST00000287482, OTTHUMT00000029656
    Conserved Domains (3) summary
    COG1340
    Location:162472
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00187
    Location:360480
    TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...
    pfam12718
    Location:250364
    Tropomyosin_1; Tropomyosin like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    100083544..100133095 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    100665439..100715005 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)