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

Gene ID: 131408, updated on 10-Oct-2024

Summary

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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

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See FAM131A in Genome Data Viewer
Location:
3q27.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184335926..184346275)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (187145186..187155541)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (184053714..184064063)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14959 Neighboring gene proteasome 26S subunit ubiquitin receptor, non-ATPase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:184031817-184032317 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:184033042-184033663 Neighboring gene eukaryotic translation initiation factor 4 gamma 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184045141-184045641 Neighboring gene small nucleolar RNA, C/D box 66 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20908 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:184053938-184054138 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:184055930-184056541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20909 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:184061884-184062636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:184062637-184063388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184063389-184064141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184064142-184064893 Neighboring gene chloride voltage-gated channel 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184077025-184077538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184077539-184078050 Neighboring gene uncharacterized LOC124906311 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20911 Neighboring gene RNA polymerase II, I and III subunit H

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. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
  2. The RNA binding protein MEX3A promotes tumor progression of breast cancer by post-transcriptional regulation of IGFBP4. Chen W, et al. Breast Cancer Res Treat, 2023 Oct. PMID 37433992, Free PMC Article
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
  4. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article

See all (11) 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

  • MGC21688

General protein information

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Preferred Names
protein FAM131A

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_001171093.2 → NP_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/TrEMBL
    C9JP51
    Related
    ENSP00000340974.5, ENST00000340957.9
    Conserved Domains (1) summary
    pfam15010
    Location:1 → 273
    FAM131; Putative cell signalling

  2. NM_001366133.1 → NP_001353062.1  protein FAM131A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC078797, AL536231, BE620403, BM713295, HY133618
    Consensus CDS
    CCDS54689.1
    UniProtKB/TrEMBL
    C9JP51
    Related
    ENSP00000390588.1, ENST00000453072.5
    Conserved Domains (1) summary
    pfam15010
    Location:1 → 273
    FAM131; Putative cell signalling

  3. NM_001366134.1 → NP_001353063.1  protein FAM131A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC078797
    Consensus CDS
    CCDS54689.1
    UniProtKB/TrEMBL
    C9JP51
    Related
    ENSP00000388551.1, ENST00000450976.5
    Conserved Domains (1) summary
    pfam15010
    Location:1 → 273
    FAM131; Putative cell signalling

  4. NM_144635.5 → NP_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
    D3DNT6, G5E9B1, Q6UXB0, Q8TA84
    UniProtKB/TrEMBL
    A0A1W2PQP7
    Related
    ENSP00000373360.2, ENST00000383847.7
    Conserved Domains (1) summary
    pfam15010
    Location:86 → 358
    FAM131; Putative cell signalling

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_000003.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    D3DNT6, G5E9B1, Q6UXB0, Q8TA84

  2. XM_005247114.4 → XP_005247171.1  protein FAM131A isoform X3

    See identical proteins and their annotated locations for XP_005247171.1

    UniProtKB/TrEMBL
    C9JP51
    Conserved Domains (1) summary
    pfam15010
    Location:1 → 273
    FAM131; Putative cell signalling

  3. XM_047447438.1 → XP_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)

mRNA and Protein(s)

  1. XM_054345217.1 → XP_054201192.1  protein FAM131A isoform X1

  2. XM_054345219.1 → XP_054201194.1  protein FAM131A isoform X3

  3. XM_054345218.1 → XP_054201193.1  protein FAM131A isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UXB0.2 GenPept UniProtKB/Swiss-Prot:Q6UXB0

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