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FAM13A family with sequence similarity 13 member A [ Homo sapiens (human) ]

Gene ID: 10144, updated on 1-Aug-2020

Summary

Official Symbol
FAM13Aprovided by HGNC
Official Full Name
family with sequence similarity 13 member Aprovided by HGNC
Primary source
HGNC:HGNC:19367
See related
Ensembl:ENSG00000138640 MIM:613299
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
FAM13A1; ARHGAP48
Expression
Ubiquitous expression in fat (RPKM 21.4), thyroid (RPKM 14.6) and 25 other tissues See more
Orthologs

Genomic context

See FAM13A in Genome Data Viewer
Location:
4q22.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (88725954..89111398, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (89647105..90032549, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 3 Neighboring gene RNA, U6 small nuclear 33, pseudogene Neighboring gene FAM13A antisense RNA 1 Neighboring gene HNF1 motif-containing MPRA enhancer 87 Neighboring gene nucleosome assembly protein 1 like 5 Neighboring gene uncharacterized LOC105377327 Neighboring gene RNA, U6 small nuclear 907, pseudogene Neighboring gene tigger transposable element derived 2 Neighboring gene GPRIN family member 3

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
NHGRI GWA Catalog
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Genomewide association study of movement-related adverse antipsychotic effects.
NHGRI GWA Catalog
IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.
NHGRI GWA Catalog
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
NHGRI GWA Catalog
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
NHGRI GWA Catalog
Variants in FAM13A are associated with chronic obstructive pulmonary disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34562, MGC105131

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 FAM13A
Names
FAM13A1_v2 protein
family with sequence similarity 13, member A1

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_001015045.2NP_001015045.1  protein FAM13A isoform b

    See identical proteins and their annotated locations for NP_001015045.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AI658916, AK027138, BC053569, BN000265, DA450095
    Consensus CDS
    CCDS43251.1
    UniProtKB/Swiss-Prot
    O94988
    Related
    ENSP00000421562.1, ENST00000508369.5
  2. NM_001265578.1NP_001252507.1  protein FAM13A isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and has multiple differences in the coding region, including the use of an alternate start codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AI658916, BC086875, BN000265, DA450095
    Consensus CDS
    CCDS58912.1
    UniProtKB/Swiss-Prot
    O94988
    Related
    ENSP00000427189.1, ENST00000503556.5
  3. NM_001265579.1NP_001252508.1  protein FAM13A isoform d

    See identical proteins and their annotated locations for NP_001252508.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and has multiple differences in the coding region, including the use of an alternate start codon, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AB020721, AI658916, BN000265, DA450095
    Consensus CDS
    CCDS58913.1
    UniProtKB/Swiss-Prot
    O94988
    Related
    ENSP00000378450.2, ENST00000395002.6
  4. NM_001265580.1NP_001252509.1  protein FAM13A isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and has multiple differences in the coding region, including the use of an alternate start codon, compared to variant 1. The encoded isoform (e) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AI658916, AK296932, BN000265, DA450095
    Consensus CDS
    CCDS58911.1
    UniProtKB/Swiss-Prot
    O94988
    Related
    ENSP00000423252.1, ENST00000513837.5
  5. NM_014883.4NP_055698.2  protein FAM13A isoform a

    See identical proteins and their annotated locations for NP_055698.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    BN000265, DA692373
    Consensus CDS
    CCDS34029.1
    UniProtKB/Swiss-Prot
    O94988
    Related
    ENSP00000264344.5, ENST00000264344.10
    Conserved Domains (2) summary
    cd04393
    Location:39226
    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 ...
    pfam15905
    Location:617819
    HMMR_N; Hyaluronan mediated motility receptor N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    88725954..89111398 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262682.2XP_005262739.1  protein FAM13A isoform X3

    Conserved Domains (2) summary
    cd04393
    Location:19206
    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 ...
    pfam15905
    Location:597799
    HMMR_N; Hyaluronan mediated motility receptor N-terminal
  2. XM_017007627.1XP_016863116.1  protein FAM13A isoform X11

    Conserved Domains (1) summary
    cl02570
    Location:117
    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. XM_011531518.1XP_011529820.1  protein FAM13A isoform X9

    See identical proteins and their annotated locations for XP_011529820.1

    Conserved Domains (2) summary
    pfam15905
    Location:431633
    HMMR_N; Hyaluronan mediated motility receptor N-terminal
    cl02570
    Location:140
    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 ...
  4. XM_011531516.1XP_011529818.1  protein FAM13A isoform X1

    See identical proteins and their annotated locations for XP_011529818.1

    UniProtKB/Swiss-Prot
    O94988
    Conserved Domains (2) summary
    cd04393
    Location:39226
    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 ...
    pfam15905
    Location:617819
    HMMR_N; Hyaluronan mediated motility receptor N-terminal
  5. XM_011531517.2XP_011529819.1  protein FAM13A isoform X4

    Conserved Domains (2) summary
    cd04393
    Location:39226
    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 ...
    pfam15905
    Location:589791
    HMMR_N; Hyaluronan mediated motility receptor N-terminal
  6. XM_017007624.2XP_016863113.1  protein FAM13A isoform X6

  7. XM_005262681.3XP_005262738.1  protein FAM13A isoform X2

    Conserved Domains (2) summary
    cd04393
    Location:39226
    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 ...
    pfam15905
    Location:603805
    HMMR_N; Hyaluronan mediated motility receptor N-terminal
  8. XM_005262683.3XP_005262740.1  protein FAM13A isoform X5

    Conserved Domains (2) summary
    cd04393
    Location:39226
    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 ...
    pfam15905
    Location:617819
    HMMR_N; Hyaluronan mediated motility receptor N-terminal
  9. XM_017007630.2XP_016863119.1  protein FAM13A isoform X13

  10. XM_017007632.2XP_016863121.1  protein FAM13A isoform X14

  11. XM_017007628.2XP_016863117.1  protein FAM13A isoform X12

  12. XM_005262684.4XP_005262741.1  protein FAM13A isoform X11

    See identical proteins and their annotated locations for XP_005262741.1

  13. XM_017007633.2XP_016863122.1  protein FAM13A isoform X15

  14. XM_017007631.2XP_016863120.1  protein FAM13A isoform X14

  15. XM_017007629.2XP_016863118.1  protein FAM13A isoform X13

  16. XM_017007625.1XP_016863114.1  protein FAM13A isoform X7

  17. XM_017007626.1XP_016863115.1  protein FAM13A isoform X8

  18. XM_011531519.3XP_011529821.1  protein FAM13A isoform X9

    See identical proteins and their annotated locations for XP_011529821.1

    Conserved Domains (2) summary
    pfam15905
    Location:431633
    HMMR_N; Hyaluronan mediated motility receptor N-terminal
    cl02570
    Location:140
    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 ...
  19. XM_006714057.3XP_006714120.1  protein FAM13A isoform X10

    Conserved Domains (1) summary
    cl02570
    Location:1037
    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 ...
  20. XM_017007634.2XP_016863123.1  protein FAM13A isoform X16

  21. XM_024453870.1XP_024309638.1  protein FAM13A isoform X17

    Conserved Domains (1) summary
    cd04393
    Location:39226
    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 in their GTP-bound ...
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