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

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

Summary

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

Genomic context

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

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

  • 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

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

NCBI Reference Sequences (RefSeq)

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_001101800.2NP_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:19205
    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_001101801.2NP_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:187
    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_016603.3NP_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:19205
    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_006714648.1XP_006714711.1  protein FAM13B isoform X1

    See identical proteins and their annotated locations for XP_006714711.1

    Conserved Domains (1) summary
    cd04393
    Location:19205
    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_024446107.1XP_024301875.1  protein FAM13B isoform X1

    Conserved Domains (1) summary
    cd04393
    Location:19205
    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_017009550.1XP_016865039.1  protein FAM13B isoform X2

    UniProtKB/Swiss-Prot
    Q9NYF5
    Conserved Domains (1) summary
    cd04393
    Location:19205
    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_011543450.1XP_011541752.1  protein FAM13B isoform X1

    See identical proteins and their annotated locations for XP_011541752.1

    Conserved Domains (1) summary
    cd04393
    Location:19205
    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_011543448.1XP_011541750.1  protein FAM13B isoform X1

    See identical proteins and their annotated locations for XP_011541750.1

    Conserved Domains (1) summary
    cd04393
    Location:19205
    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_011543449.1XP_011541751.1  protein FAM13B isoform X1

    See identical proteins and their annotated locations for XP_011541751.1

    Conserved Domains (1) summary
    cd04393
    Location:19205
    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_005272007.2XP_005272064.1  protein FAM13B isoform X3

    Conserved Domains (1) summary
    cd04393
    Location:19205
    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_006714647.2XP_006714710.1  protein FAM13B isoform X1

    See identical proteins and their annotated locations for XP_006714710.1

    Conserved Domains (1) summary
    cd04393
    Location:19205
    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_017009551.2XP_016865040.1  protein FAM13B isoform X5

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

    Conserved Domains (1) summary
    cl02570
    Location:187
    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_017009549.1XP_016865038.1  protein FAM13B isoform X2

    UniProtKB/Swiss-Prot
    Q9NYF5
    Conserved Domains (1) summary
    cd04393
    Location:19205
    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 ...
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