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

Gene ID: 199870, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 5.6), thyroid (RPKM 3.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p35.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27725961..27763116)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (27567254..27604410)
105.20220307 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
  • 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_2023_10

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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