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

Gene ID: 199870, updated on 21-Dec-2019

Summary

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
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
Expression
Ubiquitous expression in fat (RPKM 5.6), thyroid (RPKM 3.9) and 25 other tissues See more
Orthologs

Genomic context

See FAM76A in Genome Data Viewer
Location:
1p35.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (27725961..27763116)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28052490..28089426)

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 ribulose-5-phosphate-3-epimerase pseudogene 3 Neighboring gene syntaxin 12 Neighboring gene RNA, U6 small nuclear 1245, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41946, MGC34648

Gene Ontology Provided by GOA

Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001143912.2NP_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/Swiss-Prot
    Q8TAV0
    Related
    ENSP00000010299.6, ENST00000010299.10
    Conserved Domains (1) summary
    pfam16046
    Location:4326
    FAM76; FAM76 protein
  2. NM_001143913.2NP_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/Swiss-Prot
    Q8TAV0
    Related
    ENSP00000234549.7, ENST00000234549.11
    Conserved Domains (1) summary
    pfam16046
    Location:4297
    FAM76; FAM76 protein
  3. NM_001143914.2NP_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/Swiss-Prot
    Q8TAV0
    Related
    ENSP00000363060.1, ENST00000373949.5
    Conserved Domains (1) summary
    pfam16046
    Location:4263
    FAM76; FAM76 protein
  4. NM_001143915.2NP_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/Swiss-Prot
    Q8TAV0
    Related
    ENSP00000395150.2, ENST00000419687.6
    Conserved Domains (1) summary
    pfam16046
    Location:4212
    FAM76; FAM76 protein
  5. NM_152660.3NP_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
    Q8TAV0
    Related
    ENSP00000363065.5, ENST00000373954.10
    Conserved Domains (1) summary
    pfam16046
    Location:4292
    FAM76; FAM76 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017000543.2XP_016856032.1  protein FAM76A isoform X1

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