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

Gene ID: 163786, updated on 8-Dec-2022

Summary

Official Symbol
SASS6provided by HGNC
Official Full Name
SAS-6 centriolar assembly proteinprovided by HGNC
Primary source
HGNC:HGNC:25403
See related
Ensembl:ENSG00000156876 MIM:609321; AllianceGenome:HGNC:25403
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
SAS6; SAS-6; MCPH14
Summary
The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in bone marrow (RPKM 6.8), testis (RPKM 6.7) and 25 other tissues See more
Orthologs
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Genomic context

See SASS6 in Genome Data Viewer
Location:
1p21.2
Exon count:
19
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100083570..100132930, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (99931689..99981045, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100549126..100598486, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904230 Neighboring gene solute carrier family 35 member A3 Neighboring gene RNA, U6 small nuclear 1318, pseudogene Neighboring gene major facilitator superfamily domain containing 14A Neighboring gene Sharpr-MPRA regulatory region 13340 Neighboring gene tRNA methyltransferase 13 homolog Neighboring gene leucine rich repeat containing 39

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22097, MGC119440

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome NAS
Non-traceable Author Statement
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in deuterosome ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of procentriole replication complex IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
spindle assembly abnormal protein 6 homolog

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_051914.1 RefSeqGene

    Range
    5166..54526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001304829.2NP_001291758.1  spindle assembly abnormal protein 6 homolog isoform 2

    Status: REVIEWED

    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, DC400869
    UniProtKB/Swiss-Prot
    Q6UVJ0
    UniProtKB/TrEMBL
    Q495U0
    Conserved Domains (1) summary
    COG1196
    Location:4299
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  2. NM_194292.3NP_919268.1  spindle assembly abnormal protein 6 homolog isoform 1

    See identical proteins and their annotated locations for NP_919268.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AY359522
    Consensus CDS
    CCDS764.1
    UniProtKB/Swiss-Prot
    Q6UVJ0, Q8N3K0
    Related
    ENSP00000287482.5, ENST00000287482.6
    Conserved Domains (5) summary
    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 ...
    pfam08172
    Location:445545
    CASP_C; CASP C terminal
    pfam08537
    Location:249357
    NBP1; Fungal Nap binding protein NBP1
    pfam15619
    Location:237397
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    pfam16531
    Location:46140
    SAS-6_N; Centriolar protein SAS N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    100083570..100132930 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447889.1XP_047303845.1  spindle assembly abnormal protein 6 homolog isoform X2

  2. XM_017000486.2XP_016855975.1  spindle assembly abnormal protein 6 homolog isoform X1

    UniProtKB/TrEMBL
    B4DYM7
    Conserved Domains (5) summary
    cd00187
    Location:333453
    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 ...
    pfam08172
    Location:418518
    CASP_C; CASP C terminal
    pfam08537
    Location:222330
    NBP1; Fungal Nap binding protein NBP1
    pfam15619
    Location:210370
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    pfam16531
    Location:19113
    SAS-6_N; Centriolar protein SAS N-terminal
  3. XM_047447896.1XP_047303852.1  spindle assembly abnormal protein 6 homolog isoform X2

  4. XM_047447884.1XP_047303840.1  spindle assembly abnormal protein 6 homolog isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    99931689..99981045 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)