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

    Gene ID: 131408, updated on 3-Apr-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
    mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184335926..184346275)
    RS_2023_10 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 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
    • 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 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
    3. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article
    4. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article
    5. A human protein-protein interaction network: a resource for annotating the proteome. Stelzl U, et al. Cell, 2005 Sep 23. PMID 16169070

    See all (10) 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_2023_10

    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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