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    FAM131B family with sequence similarity 131 member B [ Homo sapiens (human) ]

    Gene ID: 9715, updated on 9-Dec-2024

    Summary

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    Official Symbol
    FAM131Bprovided by HGNC
    Official Full Name
    family with sequence similarity 131 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:22202
    See related
    Ensembl:ENSG00000159784 MIM:619282; AllianceGenome:HGNC:22202
    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
    Summary
    Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 25.5), endometrium (RPKM 3.7) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM131B in Genome Data Viewer
    Location:
    7q34
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (143353400..143382304, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144708830..144737731, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (143050493..143079397, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene histidine triad nucleotide binding protein 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18721 Neighboring gene chloride voltage-gated channel 1 Neighboring gene Sharpr-MPRA regulatory region 4117 Neighboring gene FAM131B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26792 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:143077234-143078134 Neighboring gene FAM131B antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:143088659-143089259 Neighboring gene Sharpr-MPRA regulatory region 10434 Neighboring gene Sharpr-MPRA regulatory region 2529 Neighboring gene microRNA 6892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:143101922-143102436 Neighboring gene zyxin Neighboring gene EPH receptor A1 Neighboring gene EPHA1 antisense RNA 1

    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. Enzymatic analysis of WWP2 E3 ubiquitin ligase using protein microarrays identifies autophagy-related substrates. Jiang H, et al. J Biol Chem, 2022 May. PMID 35331737, Free PMC Article
    2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Oct 30. PMID 9872452
    3. Identification of proteins that interact with alpha A-crystallin using a human proteome microarray. Fan Q, et al. Mol Vis, 2014. PMID 24453475, Free PMC Article
    4. Image-based genome-wide siRNA screen identifies selective autophagy factors. Orvedahl A, et al. Nature, 2011 Dec 1. PMID 22020285, Free PMC Article
    5. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. Lee OH, et al. Mol Cell Proteomics, 2011 Feb. PMID 21044950, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0773

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM131B

    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_001031690.3 → NP_001026860.2  protein FAM131B isoform a

      See identical proteins and their annotated locations for NP_001026860.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC093673
      Consensus CDS
      CCDS47734.1
      UniProtKB/TrEMBL
      O94871
      Related
      ENSP00000410603.2, ENST00000443739.7
      Conserved Domains (1) summary
      pfam15010
      Location:67 → 353
      FAM131; Putative cell signalling

    2. NM_001278297.2 → NP_001265226.1  protein FAM131B isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (c) lacks an alternate internal exon compared to variant a. This difference causes translation initiation at a downstream AUG and results in an isoform (c) with a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC093673
      UniProtKB/Swiss-Prot
      Q86XD5
      UniProtKB/TrEMBL
      O94871
      Conserved Domains (1) summary
      pfam15010
      Location:1 → 259
      FAM131; Putative cell signalling

    3. NM_001371248.1 → NP_001358177.1  protein FAM131B isoform d

      Status: VALIDATED

      Source sequence(s)
      AC093673
      Consensus CDS
      CCDS94222.1
      UniProtKB/TrEMBL
      O94871
      Related
      ENSP00000386568.1, ENST00000409578.5
      Conserved Domains (1) summary
      pfam15010
      Location:55 → 341
      FAM131; Putative cell signalling

    4. NM_001371249.1 → NP_001358178.1  protein FAM131B isoform e

      Status: VALIDATED

      Source sequence(s)
      AC093673
      UniProtKB/TrEMBL
      O94871
      Conserved Domains (1) summary
      pfam15010
      Location:27 → 313
      FAM131; Putative cell signalling

    5. NM_001371250.1 → NP_001358179.1  protein FAM131B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (f), as well as variant b, encodes isoform b.
      Source sequence(s)
      AC092214, AC093673
      Consensus CDS
      CCDS5882.1
      UniProtKB/Swiss-Prot
      A4D2H6, A6NDW3, A8K605, B8ZZN2, D3DXE3, J3KQX2, Q7L0D6, Q86T97, Q86XD5
      UniProtKB/TrEMBL
      O94871
      Conserved Domains (1) summary
      pfam15010
      Location:39 → 325
      FAM131; Putative cell signalling

    6. NM_001371251.1 → NP_001358180.1  protein FAM131B isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (g), as well as variants h and i, encodes isoform f.
      Source sequence(s)
      AC093673
      UniProtKB/TrEMBL
      O94871
      Conserved Domains (1) summary
      pfam15010
      Location:7 → 293
      FAM131; Putative cell signalling

    7. NM_001371252.1 → NP_001358181.1  protein FAM131B isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (h), as well as variants g and i, encodes isoform f.
      Source sequence(s)
      AC093673
      UniProtKB/TrEMBL
      O94871
      Conserved Domains (1) summary
      pfam15010
      Location:7 → 293
      FAM131; Putative cell signalling

    8. NM_001371253.1 → NP_001358182.1  protein FAM131B isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (i), as well as variants g and h, encodes isoform f.
      Source sequence(s)
      AC093673, DA226407
      UniProtKB/TrEMBL
      O94871
      Conserved Domains (1) summary
      pfam15010
      Location:7 → 293
      FAM131; Putative cell signalling

    9. NM_014690.5 → NP_055505.3  protein FAM131B isoform b

      See identical proteins and their annotated locations for NP_055505.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (b) differs in the 5' UTR and coding sequence compared to variant a. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC093673
      Consensus CDS
      CCDS5882.1
      UniProtKB/Swiss-Prot
      A4D2H6, A6NDW3, A8K605, B8ZZN2, D3DXE3, J3KQX2, Q7L0D6, Q86T97, Q86XD5
      UniProtKB/TrEMBL
      O94871
      Related
      ENSP00000387147.3, ENST00000409222.7
      Conserved Domains (1) summary
      pfam15010
      Location:39 → 325
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      143353400..143382304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421075.1 → XP_047277031.1  protein FAM131B isoform X1

      UniProtKB/Swiss-Prot
      A4D2H6, A6NDW3, A8K605, B8ZZN2, D3DXE3, J3KQX2, Q7L0D6, Q86T97, Q86XD5
      UniProtKB/TrEMBL
      O94871
      Related
      ENSP00000386984.1, ENST00000409346.5

    2. XM_047421076.1 → XP_047277032.1  protein FAM131B isoform X2

      UniProtKB/TrEMBL
      O94871

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654714.1 Reference GRCh38.p14 PATCHES

      Range
      1279..1668 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      144708830..144737731 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359406.1 → XP_054215381.1  protein FAM131B isoform X1

      UniProtKB/Swiss-Prot
      A4D2H6, A6NDW3, A8K605, B8ZZN2, D3DXE3, J3KQX2, Q7L0D6, Q86T97, Q86XD5
      UniProtKB/TrEMBL
      O94871

    2. XM_054359407.1 → XP_054215382.1  protein FAM131B isoform X2

      UniProtKB/TrEMBL
      O94871
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XD5.3 GenPept UniProtKB/Swiss-Prot:Q86XD5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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