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Protein

Protein FAM13A

Gene

FAM13A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM13A
Gene namesi
Name:FAM13A
Synonyms:FAM13A1, KIAA0914
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000138640.14
HGNCiHGNC:19367 FAM13A
MIMi613299 gene
neXtProtiNX_O94988

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

DisGeNETi10144
MalaCardsiFAM13A
OpenTargetsiENSG00000138640
Orphaneti2032 Idiopathic pulmonary fibrosis
PharmGKBiPA164719541

Polymorphism and mutation databases

BioMutaiFAM13A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000589201 – 1023Protein FAM13AAdd BLAST1023

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei345PhosphoserineBy similarity1
Modified residuei597PhosphoserineBy similarity1
Modified residuei617PhosphoserineBy similarity1
Modified residuei727PhosphoserineBy similarity1
Modified residuei732PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO94988
MaxQBiO94988
PaxDbiO94988
PeptideAtlasiO94988
PRIDEiO94988
ProteomicsDBi50613
50614 [O94988-1]
50615 [O94988-3]
50616 [O94988-5]
50617 [O94988-6]

PTM databases

iPTMnetiO94988
PhosphoSitePlusiO94988

Expressioni

Tissue specificityi

Isoform 1 is widely expressed, with highest expression in skeletal muscle, thymus, brain and lung. Isoform 3 is less abundant than isoform 1 and predominantly expressed in kidney, pancreas,liver, lung and thymus.1 Publication

Gene expression databases

BgeeiENSG00000138640 Expressed in 232 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiO94988 baseline and differential
GenevisibleiO94988 HS

Organism-specific databases

HPAiHPA038108
HPA038109

Interactioni

Protein-protein interaction databases

BioGridi115447, 11 interactors
IntActiO94988, 7 interactors
STRINGi9606.ENSP00000264344

Structurei

3D structure databases

ProteinModelPortaliO94988
SMRiO94988
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini43 – 231Rho-GAPPROSITE-ProRule annotationAdd BLAST189

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili666 – 730Sequence analysisAdd BLAST65
Coiled coili946 – 978Sequence analysisAdd BLAST33

Sequence similaritiesi

Belongs to the FAM13 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4270 Eukaryota
ENOG410XRR2 LUCA
GeneTreeiENSGT00440000037511
HOGENOMiHOG000112468
HOVERGENiHBG051529
InParanoidiO94988
OMAiQEDERPM
OrthoDBiEOG091G014P
PhylomeDBiO94988
TreeFamiTF328895

Family and domain databases

Gene3Di1.10.555.10, 1 hit
InterProiView protein in InterPro
IPR039102 FAM13
IPR008936 Rho_GTPase_activation_prot
IPR000198 RhoGAP_dom
PANTHERiPTHR15904 PTHR15904, 1 hit
PfamiView protein in Pfam
PF00620 RhoGAP, 1 hit
SMARTiView protein in SMART
SM00324 RhoGAP, 1 hit
SUPFAMiSSF48350 SSF48350, 1 hit
PROSITEiView protein in PROSITE
PS50238 RHOGAP, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3 (identifier: O94988-4) [UniParc]FASTAAdd to basket
Also known as: FAM13A1_v2

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGAGALAICQ SKAAVRLKED MKKIVAVPLN EQKDFTYQKL FGVSLQELER
60 70 80 90 100
QGLTENGIPA VVWNIVEYLT QHGLTQEGLF RVNGNVKVVE QLRLKFESGV
110 120 130 140 150
PVELGKDGDV CSAASLLKLF LRELPDSLIT SALQPRFIQL FQDGRNDVQE
160 170 180 190 200
SSLRDLIKEL PDTHYCLLKY LCQFLTKVAK HHVQNRMNVH NLATVFGPNC
210 220 230 240 250
FHVPPGLEGM KEQDLCNKIM AKILENYNTL FEVEYTENDH LRCENLARLI
260 270 280 290 300
IVKEVYYKNS LPILLTRGLE RDMPKPPPKT KIPKSRSEGS IQAHRVLQPE
310 320 330 340 350
LSDGIPQLSL RLSYRKACLE DMNSAEGAIS AKLVPSSQED ERPLSPFYLS
360 370 380 390 400
AHVPQVSNVS ATGELLERTI RSAVEQHLFD VNNSGGQSSE DSESGTLSAS
410 420 430 440 450
SATSARQRRR QSKEQDEVRH GRDKGLINKE NTPSGFNHLD DCILNTQEVE
460 470 480 490 500
KVHKNTFGCA GERSKPKRQK SSTKLSELHD NQDGLVNMES LNSTRSHERT
510 520 530 540 550
GPDDFEWMSD ERKGNEKDGG HTQHFESPTM KIQEHPSLSD TKQQRNQDAG
560 570 580 590 600
DQEESFVSEV PQSDLTALCD EKNWEEPIPA FSSWQRENSD SDEAHLSPQA
610 620 630 640 650
GRLIRQLLDE DSDPMLSPRF YAYGQSRQYL DDTEVPPSPP NSHSFMRRRS
660 670 680 690 700
SSLGSYDDEQ EDLTPAQLTR RIQSLKKKIR KFEDRFEEEK KYRPSHSDKA
710 720 730 740 750
ANPEVLKWTN DLAKFRRQLK ESKLKISEED LTPRMRQRSN TLPKSFGSQL
760 770 780 790 800
EKEDEKKQEL VDKAIKPSVE ATLESIQRKL QEKRAESSRP EDIKDMTKDQ
810 820 830 840 850
IANEKVALQK ALLYYESIHG RPVTKNERQV MKPLYDRYRL VKQILSRANT
860 870 880 890 900
IPIIGSPSSK RRSPLLQPII EGETASFFKE IKEEEEGSED DSNVKPDFMV
910 920 930 940 950
TLKTDFSARC FLDQFEDDAD GFISPMDDKI PSKCSQDTGL SNLHAASIPE
960 970 980 990 1000
LLEHLQEMRE EKKRIRKKLR DFEDNFFRQN GRNVQKEDRT PMAEEYSEYK
1010 1020
HIKAKLRLLE VLISKRDTDS KSM
Length:1,023
Mass (Da):116,932
Last modified:May 18, 2010 - v2
Checksum:i767AC5A8EC862D68
GO
Isoform 1 (identifier: O94988-1) [UniParc]FASTAAdd to basket
Also known as: FAM13A1_v1

The sequence of this isoform differs from the canonical sequence as follows:
     1-326: Missing.
     327-335: GAISAKLVP → MACEIMPLQ

Show »
Length:697
Mass (Da):80,190
Checksum:iA95CFCDA5C0EEB00
GO
Isoform 2 (identifier: O94988-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-326: Missing.
     327-335: GAISAKLVP → MACEIMPLQ
     855-882: Missing.

Note: No experimental confirmation available.
Show »
Length:669
Mass (Da):77,104
Checksum:i6F72E70FA972482F
GO
Isoform 4 (identifier: O94988-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-340: Missing.
     341-349: ERPLSPFYL → MACEIMPLQ

Note: No experimental confirmation available.
Show »
Length:683
Mass (Da):78,540
Checksum:i02F9B3C086F8FD80
GO
Isoform 5 (identifier: O94988-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-354: Missing.
     355-364: QVSNVSATGE → MACEIMPLQR

Note: No experimental confirmation available.
Show »
Length:669
Mass (Da):77,232
Checksum:i904972533846C861
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PGM7E9PGM7_HUMAN
Protein FAM13A
FAM13A
609Annotation score:
D6RFM4D6RFM4_HUMAN
Protein FAM13A
FAM13A
277Annotation score:
D6RCC1D6RCC1_HUMAN
Protein FAM13A
FAM13A
150Annotation score:
D6RGE4D6RGE4_HUMAN
Protein FAM13A
FAM13A
129Annotation score:
Q6P521Q6P521_HUMAN
FAM13A protein
FAM13A
202Annotation score:
D6RD35D6RD35_HUMAN
Protein FAM13A
FAM13A
186Annotation score:
D6RIY4D6RIY4_HUMAN
Protein FAM13A
FAM13A
163Annotation score:

Sequence cautioni

The sequence BAA74937 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC03636 differs from that shown. Intron retention.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti509S → T in AK027138 (PubMed:14702039).Curated1
Sequence conflicti740N → Y in BAG59483 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049019769V → I1 PublicationCorresponds to variant dbSNP:rs7657817Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0391521 – 354Missing in isoform 5. 1 PublicationAdd BLAST354
Alternative sequenceiVSP_0391531 – 340Missing in isoform 4. 1 PublicationAdd BLAST340
Alternative sequenceiVSP_0391541 – 326Missing in isoform 1 and isoform 2. 2 PublicationsAdd BLAST326
Alternative sequenceiVSP_039155327 – 335GAISAKLVP → MACEIMPLQ in isoform 1 and isoform 2. 2 Publications9
Alternative sequenceiVSP_039156341 – 349ERPLSPFYL → MACEIMPLQ in isoform 4. 1 Publication9
Alternative sequenceiVSP_039157355 – 364QVSNVSATGE → MACEIMPLQR in isoform 5. 1 Publication10
Alternative sequenceiVSP_039158855 – 882Missing in isoform 2. 2 PublicationsAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB020721 mRNA Translation: BAA74937.3 Different initiation.
AK027138 mRNA No translation available.
AK091328 mRNA Translation: BAC03636.1 Sequence problems.
AK296932 mRNA Translation: BAG59483.1
AC108065 Genomic DNA No translation available.
AC021183 Genomic DNA No translation available.
BC086875 mRNA Translation: AAH86875.1
BN000265 mRNA Translation: CAE18110.1
CCDSiCCDS34029.1 [O94988-4]
CCDS43251.1 [O94988-1]
CCDS58911.1 [O94988-6]
CCDS58912.1 [O94988-5]
CCDS58913.1 [O94988-3]
RefSeqiNP_001015045.1, NM_001015045.2 [O94988-1]
NP_001252507.1, NM_001265578.1 [O94988-5]
NP_001252508.1, NM_001265579.1 [O94988-3]
NP_001252509.1, NM_001265580.1 [O94988-6]
NP_055698.2, NM_014883.3 [O94988-4]
XP_011529818.1, XM_011531516.1 [O94988-4]
UniGeneiHs.714536
Hs.97270

Genome annotation databases

EnsembliENST00000264344; ENSP00000264344; ENSG00000138640 [O94988-4]
ENST00000395002; ENSP00000378450; ENSG00000138640 [O94988-3]
ENST00000503556; ENSP00000427189; ENSG00000138640 [O94988-5]
ENST00000508369; ENSP00000421562; ENSG00000138640 [O94988-1]
ENST00000513837; ENSP00000423252; ENSG00000138640 [O94988-6]
GeneIDi10144
KEGGihsa:10144
UCSCiuc003hsb.3 human [O94988-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB020721 mRNA Translation: BAA74937.3 Different initiation.
AK027138 mRNA No translation available.
AK091328 mRNA Translation: BAC03636.1 Sequence problems.
AK296932 mRNA Translation: BAG59483.1
AC108065 Genomic DNA No translation available.
AC021183 Genomic DNA No translation available.
BC086875 mRNA Translation: AAH86875.1
BN000265 mRNA Translation: CAE18110.1
CCDSiCCDS34029.1 [O94988-4]
CCDS43251.1 [O94988-1]
CCDS58911.1 [O94988-6]
CCDS58912.1 [O94988-5]
CCDS58913.1 [O94988-3]
RefSeqiNP_001015045.1, NM_001015045.2 [O94988-1]
NP_001252507.1, NM_001265578.1 [O94988-5]
NP_001252508.1, NM_001265579.1 [O94988-3]
NP_001252509.1, NM_001265580.1 [O94988-6]
NP_055698.2, NM_014883.3 [O94988-4]
XP_011529818.1, XM_011531516.1 [O94988-4]
UniGeneiHs.714536
Hs.97270

3D structure databases

ProteinModelPortaliO94988
SMRiO94988
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115447, 11 interactors
IntActiO94988, 7 interactors
STRINGi9606.ENSP00000264344

PTM databases

iPTMnetiO94988
PhosphoSitePlusiO94988

Polymorphism and mutation databases

BioMutaiFAM13A

Proteomic databases

EPDiO94988
MaxQBiO94988
PaxDbiO94988
PeptideAtlasiO94988
PRIDEiO94988
ProteomicsDBi50613
50614 [O94988-1]
50615 [O94988-3]
50616 [O94988-5]
50617 [O94988-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264344; ENSP00000264344; ENSG00000138640 [O94988-4]
ENST00000395002; ENSP00000378450; ENSG00000138640 [O94988-3]
ENST00000503556; ENSP00000427189; ENSG00000138640 [O94988-5]
ENST00000508369; ENSP00000421562; ENSG00000138640 [O94988-1]
ENST00000513837; ENSP00000423252; ENSG00000138640 [O94988-6]
GeneIDi10144
KEGGihsa:10144
UCSCiuc003hsb.3 human [O94988-4]

Organism-specific databases

CTDi10144
DisGeNETi10144
EuPathDBiHostDB:ENSG00000138640.14
GeneCardsiFAM13A
H-InvDBiHIX0004368
HGNCiHGNC:19367 FAM13A
HPAiHPA038108
HPA038109
MalaCardsiFAM13A
MIMi613299 gene
neXtProtiNX_O94988
OpenTargetsiENSG00000138640
Orphaneti2032 Idiopathic pulmonary fibrosis
PharmGKBiPA164719541
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4270 Eukaryota
ENOG410XRR2 LUCA
GeneTreeiENSGT00440000037511
HOGENOMiHOG000112468
HOVERGENiHBG051529
InParanoidiO94988
OMAiQEDERPM
OrthoDBiEOG091G014P
PhylomeDBiO94988
TreeFamiTF328895

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle

Miscellaneous databases

ChiTaRSiFAM13A human
GeneWikiiFamily_with_sequence_similarity_13,_member_A1
GenomeRNAii10144
PROiPR:O94988
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138640 Expressed in 232 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiO94988 baseline and differential
GenevisibleiO94988 HS

Family and domain databases

Gene3Di1.10.555.10, 1 hit
InterProiView protein in InterPro
IPR039102 FAM13
IPR008936 Rho_GTPase_activation_prot
IPR000198 RhoGAP_dom
PANTHERiPTHR15904 PTHR15904, 1 hit
PfamiView protein in Pfam
PF00620 RhoGAP, 1 hit
SMARTiView protein in SMART
SM00324 RhoGAP, 1 hit
SUPFAMiSSF48350 SSF48350, 1 hit
PROSITEiView protein in PROSITE
PS50238 RHOGAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFA13A_HUMAN
AccessioniPrimary (citable) accession number: O94988
Secondary accession number(s): B4DLC1
, Q24JP0, Q5PR21, Q8NBA3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 136 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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