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FAM13B family with sequence similarity 13 member B [ Homo sapiens (human) ]

Gene ID: 51306, updated on 13-Mar-2020

Summary

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Official Symbol
FAM13Bprovided by HGNC
Official Full Name
family with sequence similarity 13 member Bprovided by HGNC
Primary source
HGNC:HGNC:1335
See related
Ensembl:ENSG00000031003 MIM:609371
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
N61; KHCHP; C5orf5; FAM13B1; ARHGAP49
Expression
Ubiquitous expression in testis (RPKM 17.1), endometrium (RPKM 11.7) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See FAM13B in Genome Data Viewer
Location:
5q31.2
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (137937909..138051961, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137273638..137387650, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986368 Neighboring gene uncharacterized LOC101928005 Neighboring gene myotilin Neighboring gene polycystin 2 like 2, transient receptor potential cation channel Neighboring gene uncharacterized LOC100130172 Neighboring gene RNA, U6 small nuclear 1148, pseudogene Neighboring gene Wnt family member 8A

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. cDNA cloning and genomic structure of three genes localized to human chromosome band 5q31 encoding potential nuclear proteins. Lai F, et al. Genomics, 2000 Nov 15. PMID 11087669
  2. The eukaryotic elongation factor eEF1A1 interacts with SAMHD1. Morrissey C, et al. Biochem J, 2015 Feb 15. PMID 25423367
  3. Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q31 in malignant myeloid diseases with a del(5q). Lai F, et al. Genomics, 2001 Jan 15. PMID 11161817
  4. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Hu RM, et al. Proc Natl Acad Sci U S A, 2000 Aug 15. PMID 10931946, Free PMC Article
  5. Image-based genome-wide siRNA screen identifies selective autophagy factors. Orvedahl A, et al. Nature, 2011 Dec 1. PMID 22020285, Free PMC Article

See all (12) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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

  • FLJ26735, MGC57159, DKFZp667F249

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
  
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
protein FAM13B
Names
GAP-like protein N61
family with sequence similarity 13, member B1

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_001101800.2 → NP_001095270.1  protein FAM13B isoform 2

    See identical proteins and their annotated locations for NP_001095270.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC113382, AF157316, AF251038, AW592656, BC048965, DA499233
    Consensus CDS
    CCDS47269.1
    UniProtKB/Swiss-Prot
    Q9NYF5
    Related
    ENSP00000388521.2, ENST00000420893.6
    Conserved Domains (1) summary
    cd04393
    Location:19 → 205
    RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

  2. NM_001101801.2 → NP_001095271.1  protein FAM13B isoform 3

    See identical proteins and their annotated locations for NP_001095271.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has a distinct 5' UTR, lacks an in-frame portion of the 5' coding region, contains an alternate in-frame exon in the mid-coding region, and lacks an alternate in-frame exon in the 3' coding region, as compared to variant 1. This results in a shorter isoform (3) that has a truncated N-terminus, compared to isoform 1.
    Source sequence(s)
    AC113382, AF157316, AF251038, AW592656, BC041335, BC048965, DA499233
    Consensus CDS
    CCDS47270.1
    UniProtKB/Swiss-Prot
    Q9NYF5
    Related
    ENSP00000394669.2, ENST00000425075.6
    Conserved Domains (1) summary
    cl02570
    Location:1 → 87
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

  3. NM_016603.3 → NP_057687.2  protein FAM13B isoform 1

    See identical proteins and their annotated locations for NP_057687.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC113382, AF157316, AF251038, AW592656, BU183000, DA499233
    Consensus CDS
    CCDS4195.1
    UniProtKB/Swiss-Prot
    Q9NYF5
    Related
    ENSP00000033079.3, ENST00000033079.7
    Conserved Domains (1) summary
    cd04393
    Location:19 → 205
    RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    137937909..138051961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714648.1 → XP_006714711.1  protein FAM13B isoform X1

    See identical proteins and their annotated locations for XP_006714711.1

    Conserved Domains (1) summary
    cd04393
    Location:19 → 205
    RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

  2. XM_024446107.1 → XP_024301875.1  protein FAM13B isoform X1

    Conserved Domains (1) summary
    cd04393
    Location:19 → 205
    RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

  3. XM_017009550.1 → XP_016865039.1  protein FAM13B isoform X2

    UniProtKB/Swiss-Prot
    Q9NYF5
    Conserved Domains (1) summary
    cd04393
    Location:19 → 205
    RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

  4. XM_011543450.1 → XP_011541752.1  protein FAM13B isoform X1

    See identical proteins and their annotated locations for XP_011541752.1

    Conserved Domains (1) summary
    cd04393
    Location:19 → 205
    RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

  5. XM_011543448.1 → XP_011541750.1  protein FAM13B isoform X1

    See identical proteins and their annotated locations for XP_011541750.1

    Conserved Domains (1) summary
    cd04393
    Location:19 → 205
    RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

  6. XM_011543449.1 → XP_011541751.1  protein FAM13B isoform X1

    See identical proteins and their annotated locations for XP_011541751.1

    Conserved Domains (1) summary
    cd04393
    Location:19 → 205
    RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

  7. XM_005272007.2 → XP_005272064.1  protein FAM13B isoform X3

    Conserved Domains (1) summary
    cd04393
    Location:19 → 205
    RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

  8. XM_006714647.2 → XP_006714710.1  protein FAM13B isoform X1

    See identical proteins and their annotated locations for XP_006714710.1

    Conserved Domains (1) summary
    cd04393
    Location:19 → 205
    RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

  9. XM_017009551.2 → XP_016865040.1  protein FAM13B isoform X5

  10. XM_006714649.2 → XP_006714712.1  protein FAM13B isoform X4

    Conserved Domains (1) summary
    cl02570
    Location:1 → 87
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

  11. XM_017009549.1 → XP_016865038.1  protein FAM13B isoform X2

    UniProtKB/Swiss-Prot
    Q9NYF5
    Conserved Domains (1) summary
    cd04393
    Location:19 → 205
    RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYF5.2 GenPept UniProtKB/Swiss-Prot:Q9NYF5

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