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    FAM76A family with sequence similarity 76 member A [ Homo sapiens (human) ]

    Gene ID: 199870, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM76Aprovided by HGNC
    Official Full Name
    family with sequence similarity 76 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:28530
    See related
    Ensembl:ENSG00000009780 AllianceGenome:HGNC:28530
    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
    Summary
    Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 5.6), thyroid (RPKM 3.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM76A in Genome Data Viewer
    Location:
    1p35.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27725961..27763116)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (27567254..27604410)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28052472..28089627)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene charged multivesicular body protein 1A pseudogene 1 Neighboring gene RNA, U6 small nuclear 424, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:28051816-28052458 Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 3 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:28099566-28100066 and GRCh37_chr1:28100067-28100567 Neighboring gene syntaxin 12 Neighboring gene NANOG hESC enhancer GRCh37_chr1:28133702-28134225 Neighboring gene RNA, U6 small nuclear 1245, pseudogene

    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 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. Genome-wide analysis of histidine repeats reveals their role in the localization of human proteins to the nuclear speckles compartment. Salichs E, et al. PLoS Genet, 2009 Mar. PMID 19266028, Free PMC Article
    2. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    3. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. Human-chromatin-related protein interactions identify a demethylase complex required for chromosome segregation. Marcon E, et al. Cell Rep, 2014 Jul 10. PMID 24981860

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Clone Names

    • FLJ41946, MGC34648

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in nuclear speck IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM76A

    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_001143912.2 → NP_001137384.1  protein FAM76A isoform 1

      See identical proteins and their annotated locations for NP_001137384.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL020997, AL035307, BC025768
      Consensus CDS
      CCDS44092.1
      UniProtKB/TrEMBL
      A8K255
      Related
      ENSP00000010299.6, ENST00000010299.10
      Conserved Domains (1) summary
      pfam16046
      Location:4 → 326
      FAM76; FAM76 protein

    2. NM_001143913.2 → NP_001137385.1  protein FAM76A isoform 2

      See identical proteins and their annotated locations for NP_001137385.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon in the 3' region, and encodes a shorter isoform (2), as compared to variant 1.
      Source sequence(s)
      AL020997, AL035309, BC025768
      Consensus CDS
      CCDS44093.1
      UniProtKB/TrEMBL
      A8K255
      Related
      ENSP00000234549.7, ENST00000234549.11
      Conserved Domains (1) summary
      pfam16046
      Location:4 → 297
      FAM76; FAM76 protein

    3. NM_001143914.2 → NP_001137386.1  protein FAM76A isoform 4

      See identical proteins and their annotated locations for NP_001137386.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two in-frame coding exons, and encodes a shorter isoform (4), as compared to variant 1.
      Source sequence(s)
      AK098318, AL020997, BC025768
      Consensus CDS
      CCDS44094.1
      UniProtKB/TrEMBL
      A8K255
      Related
      ENSP00000363060.1, ENST00000373949.5
      Conserved Domains (1) summary
      pfam16046
      Location:4 → 263
      FAM76; FAM76 protein

    4. NM_001143915.2 → NP_001137387.1  protein FAM76A isoform 5

      See identical proteins and their annotated locations for NP_001137387.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks three in-frame coding exons, and encodes a shorter isoform (5), as compared to variant 1.
      Source sequence(s)
      AK301672, AL020997, BC025768
      Consensus CDS
      CCDS44095.1
      UniProtKB/TrEMBL
      A8K255
      Related
      ENSP00000395150.2, ENST00000419687.6
      Conserved Domains (1) summary
      pfam16046
      Location:4 → 212
      FAM76; FAM76 protein

    5. NM_152660.3 → NP_689873.1  protein FAM76A isoform 3

      See identical proteins and their annotated locations for NP_689873.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon in the 5' region, and encodes a shorter isoform (3), as compared to variant 1.
      Source sequence(s)
      AL020997, BC025768
      Consensus CDS
      CCDS309.1
      UniProtKB/Swiss-Prot
      B4DWT3, O95565, O95566, Q8N7J5, Q8TAV0
      UniProtKB/TrEMBL
      A8K255
      Related
      ENSP00000363065.5, ENST00000373954.11
      Conserved Domains (1) summary
      pfam16046
      Location:4 → 292
      FAM76; FAM76 protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      27725961..27763116
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000543.3 → XP_016856032.1  protein FAM76A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      27567254..27604410
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334876.1 → XP_054190851.1  protein FAM76A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAV0.1 GenPept UniProtKB/Swiss-Prot:Q8TAV0

    Gene LinkOut

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

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