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

Gene ID: 29901, updated on 5-Mar-2024

Summary

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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 active in centrosome; nucleus; and spindle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 7.3), colon (RPKM 3.1) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
11q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65040933..65044828)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65034212..65038110)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. SAC3D1 activates Wnt/β‑catenin signalling in hepatocellular carcinoma. Wang H, et al. Mol Med Rep, 2022 Oct. PMID 36004462
  2. Upregulated expression of SAC3D1 is associated with progression in gastric cancer. Liu AG, et al. Int J Oncol, 2020 Jul. PMID 32319600, Free PMC Article
  3. SAC3D1: a novel prognostic marker in hepatocellular carcinoma. Han ME, et al. Sci Rep, 2018 Oct 23. PMID 30353105, Free PMC Article
  4. The Sac3 homologue shd1 is involved in mitotic progression in mammalian cells. Khuda SE, et al. J Biol Chem, 2004 Oct 29. PMID 15322101
  5. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. Woldegebriel R, et al. Hum Mol Genet, 2020 Jun 3. PMID 32202298, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SAC3D1 activates Wnt/betacatenin signalling in hepatocellular carcinoma.
    Title: SAC3D1 activates Wnt/β‑catenin signalling in hepatocellular carcinoma.
  2. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
    Title: Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
  3. Upregulated expression of SAC3D1 is associated with progression in gastric cancer.
    Title: Upregulated expression of SAC3D1 is associated with progression in gastric cancer.
  4. In this study, 3 independent cohorts (GSE10186, n = 80; TCGA, n = 330 and ICGC, n = 237) were used to assess SAC3D1 as a biomarker, which demonstrated SAC3D1 overexpression in hepatocellular carcinoma tissues when compared to the matched normal tissues.
    Title: SAC3D1: a novel prognostic marker in hepatocellular carcinoma.
  5. SHD1 is a novel cytokine-inducible negative feedback regulator of STAT5a.
    Title: SHD1 is a novel cytokine-inducible, negative feedback regulator of STAT5-dependent transcription.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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

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_001367485.1 → NP_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:9 → 302
    SAC3_GANP; SAC3/GANP family

  2. NM_001367486.1 → NP_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_001367487.1 → NP_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_001367488.1 → NP_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_013299.4 → NP_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:9 → 302
    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_2023_10

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NKF1.2 GenPept UniProtKB/Swiss-Prot:A6NKF1

Gene LinkOut

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