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

    Gene ID: 29901, updated on 10-Dec-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 part of protein-containing complex. Predicted to be active in centrosome; nucleus; and spindle. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 7.3), colon (RPKM 3.1) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    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

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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 (19) 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)

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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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