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    SAC3D1 SAC3 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 29901, updated on 28-Oct-2024

    Summary

    Official Symbol
    SAC3D1provided by HGNC
    Official Full Name
    SAC3 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:30179
    See related
    Ensembl:ENSG00000168061 MIM:618796; AllianceGenome:HGNC:30179
    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
    SHD1; HSU79266
    Summary
    Predicted to be involved in centrosome duplication and spindle assembly. Predicted to act upstream of or within negative regulation of receptor signaling pathway via JAK-STAT and regulation of immune response. Predicted to be located in microtubule cytoskeleton. Predicted to be part of protein-containing complex. Predicted to be active in centrosome; nucleus; and spindle. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 7.3), colon (RPKM 3.1) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SAC3D1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65040933..65044828)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65034212..65038110)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64808405..64812300)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ARL2-SNX15 readthrough (NMD candidate) Neighboring gene Sharpr-MPRA regulatory region 4003 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 18 Neighboring gene sorting nexin 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3507 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64811302-64811848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64814570-64815448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64815449-64816327 Neighboring gene N-acetylated alpha-linked acidic dipeptidase like 1 Neighboring gene Sharpr-MPRA regulatory region 288 Neighboring gene cell division cycle associated 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64846103-64846604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64852413-64852997 Neighboring gene zinc finger protein like 1 Neighboring gene transmembrane protein 262

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in centrosome duplication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    SAC3 domain-containing protein 1
    Names
    SAC3 homology domain-containing protein 1
    Sac3 homology domain 1

    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_001367485.1NP_001354414.1  SAC3 domain-containing protein 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variant 1, encodes isoform a.
      Source sequence(s)
      AP003068
      Consensus CDS
      CCDS41668.1
      UniProtKB/Swiss-Prot
      A6NKF1, A8MX08, Q99773
      UniProtKB/TrEMBL
      F8WC89
      Related
      ENSP00000436649.1, ENST00000531072.1
      Conserved Domains (1) summary
      pfam03399
      Location:9302
      SAC3_GANP; SAC3/GANP family
    2. NM_001367486.1NP_001354415.1  SAC3 domain-containing protein 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AP003068, U79266
      Consensus CDS
      CCDS91506.1
      UniProtKB/TrEMBL
      H9KVA8
      Related
      ENSP00000381824.2, ENST00000398846.6
    3. NM_001367487.1NP_001354416.1  SAC3 domain-containing protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variant 5, encodes isoform c.
      Source sequence(s)
      AP003068
      Consensus CDS
      CCDS91505.1
      UniProtKB/TrEMBL
      A0A6I8PRW4
    4. NM_001367488.1NP_001354417.1  SAC3 domain-containing protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variant 4, encodes isoform c.
      Source sequence(s)
      AP003068
      Consensus CDS
      CCDS91505.1
      UniProtKB/TrEMBL
      A0A6I8PRW4
      Related
      ENSP00000501403.1, ENST00000674184.1
    5. NM_013299.4NP_037431.3  SAC3 domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_037431.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AP003068, BC007448
      Consensus CDS
      CCDS41668.1
      UniProtKB/Swiss-Prot
      A6NKF1, A8MX08, Q99773
      UniProtKB/TrEMBL
      F8WC89
      Related
      ENSP00000499090.1, ENST00000652489.1
      Conserved Domains (1) summary
      pfam03399
      Location:9302
      SAC3_GANP; SAC3/GANP family

    RNA

    1. NR_160028.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP003068, BI088075
      Related
      ENST00000533017.1
    2. NR_160029.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP003068

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      65040933..65044828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65034212..65038110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)