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FAM131A family with sequence similarity 131 member A [ Homo sapiens (human) ]

Gene ID: 131408, updated on 5-Aug-2022

Summary

Official Symbol
FAM131Aprovided by HGNC
Official Full Name
family with sequence similarity 131 member Aprovided by HGNC
Primary source
HGNC:HGNC:28308
See related
Ensembl:ENSG00000175182 AllianceGenome:HGNC:28308
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
C3orf40; FLAT715; PRO1378
Expression
Ubiquitous expression in brain (RPKM 19.8), adrenal (RPKM 6.0) and 23 other tissues See more
Orthologs
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Genomic context

See FAM131A in Genome Data Viewer
Location:
3q27.1
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184335926..184346275)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (187145186..187155541)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (184053714..184064063)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene proteasome 26S subunit ubiquitin receptor, non-ATPase 2 Neighboring gene eukaryotic translation initiation factor 4 gamma 1 Neighboring gene small nucleolar RNA, C/D box 66 Neighboring gene chloride voltage-gated channel 2 Neighboring gene uncharacterized LOC124906311 Neighboring gene RNA polymerase II, I and III subunit H

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

  • MGC21688

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_001171093.2NP_001164564.1  protein FAM131A isoform 2

    See identical proteins and their annotated locations for NP_001164564.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC078797, BC037299, CA416923, DB472337
    Consensus CDS
    CCDS54689.1
    UniProtKB/Swiss-Prot
    Q6UXB0
    Related
    ENSP00000340974.5, ENST00000340957.9
    Conserved Domains (1) summary
    pfam15010
    Location:1273
    FAM131; Putative cell signalling
  2. NM_001366133.1NP_001353062.1  protein FAM131A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC078797, AL536231, BE620403, BM713295, HY133618
    Related
    ENSP00000390588.1, ENST00000453072.5
    Conserved Domains (1) summary
    pfam15010
    Location:1273
    FAM131; Putative cell signalling
  3. NM_001366134.1NP_001353063.1  protein FAM131A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC078797
    Related
    ENSP00000388551.1, ENST00000450976.5
    Conserved Domains (1) summary
    pfam15010
    Location:1273
    FAM131; Putative cell signalling
  4. NM_144635.5NP_653236.3  protein FAM131A isoform 1

    See identical proteins and their annotated locations for NP_653236.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript (1) and encodes the longer isoform (1).
    Source sequence(s)
    BC037299, CA416923, DB472892
    Consensus CDS
    CCDS3262.2
    UniProtKB/Swiss-Prot
    Q6UXB0, Q8TA84
    Related
    ENSP00000373360.2, ENST00000383847.7
    Conserved Domains (1) summary
    pfam15010
    Location:86358
    FAM131; Putative cell signalling

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    184335926..184346275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447437.1XP_047303393.1  protein FAM131A isoform X1

    UniProtKB/Swiss-Prot
    Q8TA84
  2. XM_005247114.4XP_005247171.1  protein FAM131A isoform X3

    See identical proteins and their annotated locations for XP_005247171.1

    UniProtKB/Swiss-Prot
    Q6UXB0
    Conserved Domains (1) summary
    pfam15010
    Location:1273
    FAM131; Putative cell signalling
  3. XM_047447438.1XP_047303394.1  protein FAM131A isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    187145186..187155541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)