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FAM104A family with sequence similarity 104 member A [ Homo sapiens (human) ]

Gene ID: 84923, updated on 7-Jun-2020

Summary

Official Symbol
FAM104Aprovided by HGNC
Official Full Name
family with sequence similarity 104 member Aprovided by HGNC
Primary source
HGNC:HGNC:25918
See related
Ensembl:ENSG00000133193
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
Broad expression in testis (RPKM 36.2), bone marrow (RPKM 16.4) and 24 other tissues See more
Orthologs

Genomic context

See FAM104A in Genome Data Viewer
Location:
17q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (73207353..73232394, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (71203492..71228533, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA polymerase III subunit K pseudogene 2 Neighboring gene somatostatin receptor 2 Neighboring gene component of oligomeric golgi complex 1 Neighboring gene chromosome 17 open reading frame 80 Neighboring gene cleavage and polyadenylation specific factor 4 like Neighboring gene Sharpr-MPRA regulatory region 4436 Neighboring gene CDC42 effector protein 4

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

  • FLJ14775

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
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_001098832.1NP_001092302.1  protein FAM104A isoform 1

    See identical proteins and their annotated locations for NP_001092302.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI926103, AK027681, BC025238, BX537858, DB265439
    Consensus CDS
    CCDS45766.1
    UniProtKB/Swiss-Prot
    Q969W3
    Related
    ENSP00000384832.3, ENST00000405159.7
    Conserved Domains (1) summary
    pfam15434
    Location:79207
    FAM104; Family 104
  2. NM_001289410.1NP_001276339.1  protein FAM104A isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AI926103, AK027681, BC025238, DB265439
    Consensus CDS
    CCDS74143.1
    UniProtKB/Swiss-Prot
    Q969W3
    UniProtKB/TrEMBL
    J3KT76
    Related
    ENSP00000462840.1, ENST00000581110.1
  3. NM_001289411.1NP_001276340.1  protein FAM104A isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site and lacks an alternate exon, which results in a frameshift, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AI926103, AK027681, BC025238, BG773537, DB265439
    Consensus CDS
    CCDS74144.1
    UniProtKB/Swiss-Prot
    Q969W3
    UniProtKB/TrEMBL
    J3KSI9
    Related
    ENSP00000462507.1, ENST00000583024.1
  4. NM_001289412.1NP_001276341.1  protein FAM104A isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AI926103, AK027681, BC025238, HY026689, HY037907
    UniProtKB/Swiss-Prot
    Q969W3
    Related
    ENSP00000462806.1, ENST00000579872.1
    Conserved Domains (1) summary
    pfam15434
    Location:12140
    FAM104; Family 104
  5. NM_032837.2NP_116226.2  protein FAM104A isoform 2

    See identical proteins and their annotated locations for NP_116226.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AI926103, AK027681, BC025238, DB265439
    Consensus CDS
    CCDS11693.2
    UniProtKB/Swiss-Prot
    Q969W3
    Related
    ENSP00000384648.3, ENST00000403627.7
    Conserved Domains (1) summary
    pfam15434
    Location:79186
    FAM104; Family 104

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    73207353..73232394 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451008.1XP_024306776.1  protein FAM104A isoform X1

    Conserved Domains (1) summary
    pfam15434
    Location:4137
    FAM104; Family 104
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