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Protein

Protein FAM13B

Gene

FAM13B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

  • mitophagy in response to mitochondrial depolarization Source: ParkinsonsUK-UCL
  • positive regulation of defense response to virus by host Source: ParkinsonsUK-UCL
  • positive regulation of GTPase activity Source: GOC
  • regulation of small GTPase mediated signal transduction Source: Reactome
  • signal transduction Source: InterPro
  • xenophagy Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

ReactomeiR-HSA-194840. Rho GTPase cycle.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM13B
Alternative name(s):
GAP-like protein N61
Gene namesi
Name:FAM13B
Synonyms:C5orf5, FAM13B1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:1335. FAM13B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25916.

Polymorphism and mutation databases

BioMutaiFAM13B.
DMDMi116241292.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 915915Protein FAM13BPRO_0000058924Add
BLAST

Proteomic databases

EPDiQ9NYF5.
MaxQBiQ9NYF5.
PaxDbiQ9NYF5.
PRIDEiQ9NYF5.

PTM databases

iPTMnetiQ9NYF5.
PhosphoSiteiQ9NYF5.

Expressioni

Gene expression databases

BgeeiQ9NYF5.
ExpressionAtlasiQ9NYF5. baseline and differential.
GenevisibleiQ9NYF5. HS.

Organism-specific databases

HPAiHPA036525.
HPA041819.

Interactioni

Protein-protein interaction databases

BioGridi119457. 6 interactions.
IntActiQ9NYF5. 3 interactions.
STRINGi9606.ENSP00000033079.

Structurei

3D structure databases

ProteinModelPortaliQ9NYF5.
SMRiQ9NYF5. Positions 16-215.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini23 – 212190Rho-GAPPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi189 – 25668Glu-richAdd
BLAST

Sequence similaritiesi

Belongs to the FAM13 family.Curated
Contains 1 Rho-GAP domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4270. Eukaryota.
ENOG410XRR2. LUCA.
GeneTreeiENSGT00440000037511.
HOGENOMiHOG000112468.
HOVERGENiHBG051529.
InParanoidiQ9NYF5.
OMAiGEGSNNQ.
OrthoDBiEOG7VDXNT.
PhylomeDBiQ9NYF5.
TreeFamiTF328895.

Family and domain databases

Gene3Di1.10.555.10. 1 hit.
InterProiIPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
[Graphical view]
PfamiPF00620. RhoGAP. 1 hit.
[Graphical view]
SMARTiSM00324. RhoGAP. 1 hit.
[Graphical view]
SUPFAMiSSF48350. SSF48350. 1 hit.
PROSITEiPS50238. RHOGAP. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NYF5-1) [UniParc]FASTAAdd to basket

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
MRKSSSPSLS NCNSVLANKI FGIPLDELQQ GGHPDNEVPF IVRHVVDYIE
60 70 80 90 100
EHGGLEQQGL FQVNGNAETV EWLRQRYDSG EEVDLVKEAD VPSAISLLRF
110 120 130 140 150
FLQELPEPVI PGSLHIHLMQ LSQDYNNEDE FGRKLRFLLQ QLPPVNYSLL
160 170 180 190 200
KFLCRFLANV ASHHEEIWSA NSLAAVFGPD VFHIYTDVED MKEQEIVSRI
210 220 230 240 250
MAGLLENYYE FFENEEEDFS SNDLSSITEQ VNELSEEEEE DEKLEHIEEL
260 270 280 290 300
PEEGAEKSND MPEVVQLRMT ENILESNSVT ATSTHISPIS ILPASTDILE
310 320 330 340 350
RTIRAAVEQH LFDLQSSIDH DLKNLQQQSV VCNNEAESIH CDGEGSNNQI
360 370 380 390 400
DIADDIINAS ESNRDCSKPV ASTNLDNEAM QQDCVFENEE NTQSVGILLE
410 420 430 440 450
PCSDRGDSED GCLEREEYLL FDSDKLSHLI LDSSSKICDL NANTESEVPG
460 470 480 490 500
GQSVGVQGEA ACVSIPHLDL KNVSDGDKWE EPFPAFKSWQ EDSESGEAQL
510 520 530 540 550
SPQAGRMNHH PLEEDCPPVL SHRSLDFGQS QRFLHDPEKL DSSSKALSFT
560 570 580 590 600
RIRRSSFSSK DEKREDRTPY QLVKKLQKKI RQFEEQFERE RNSKPSYSDI
610 620 630 640 650
AANPKVLKWM TELTKLRKQI KDAKHKNSDG EFVPQTRPRS NTLPKSFGSS
660 670 680 690 700
LDHEDEENED EPKVIQKEKK PSKEATLELI LKRLKEKRIE RCLPEDIKKM
710 720 730 740 750
TKDHLVEEKA SLQKSLLYYE SQHGRPVTKE ERHIVKPLYD RYRLVKQMLT
760 770 780 790 800
RASITPVLGS PSTKRRGQML QPIIEGETAH FFEEIKEEEE DGVNLSSELG
810 820 830 840 850
DMLKTAVQVQ SSLENSESDV EENQEKLALD LRLSSSRAAS MPELLEQLWK
860 870 880 890 900
ARAEKKKLRK TLREFEEAFY QQNGRNAQKE DRVPVLEEYR EYKKIKAKLR
910
LLEVLISKQD SSKSI
Length:915
Mass (Da):104,543
Last modified:October 17, 2006 - v2
Checksum:i8D1F5DE812C47A67
GO
Isoform 2 (identifier: Q9NYF5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     699-726: Missing.

Note: No experimental confirmation available.
Show »
Length:887
Mass (Da):101,244
Checksum:i39C56932E6F502A6
GO
Isoform 3 (identifier: Q9NYF5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: Missing.
     479-479: W → WEASCPITFPLIDFKTMHLQRDG
     699-726: Missing.

Note: No experimental confirmation available.
Show »
Length:791
Mass (Da):90,577
Checksum:i11EB14B7D0E864A3
GO

Sequence cautioni

The sequence AAF67482.1 differs from that shown.Curated
The sequence AAF67482.1 differs from that shown. Reason: Frameshift at position 734. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti36 – 361N → I in AAF63764 (PubMed:11087669).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti802 – 8021M → V.
Corresponds to variant rs33956817 [ dbSNP | Ensembl ].
VAR_049020

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 118118Missing in isoform 3. 1 PublicationVSP_044870Add
BLAST
Alternative sequencei479 – 4791W → WEASCPITFPLIDFKTMHLQ RDG in isoform 3. 1 PublicationVSP_044872
Alternative sequencei699 – 72628Missing in isoform 2 and isoform 3. 1 PublicationVSP_042048Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF251038 mRNA. Translation: AAF63764.1.
AC106753 Genomic DNA. No translation available.
AC113382 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW62170.1.
CH471062 Genomic DNA. Translation: EAW62171.1.
CH471062 Genomic DNA. Translation: EAW62172.1.
CH471062 Genomic DNA. Translation: EAW62173.1.
BC041335 mRNA. No translation available.
BC048965 mRNA. Translation: AAH48965.1.
BC056887 mRNA. Translation: AAH56887.1.
AF157316 mRNA. Translation: AAF67482.1. Sequence problems.
CCDSiCCDS4195.1. [Q9NYF5-1]
CCDS47269.1. [Q9NYF5-2]
CCDS47270.1. [Q9NYF5-3]
PIRiB59433.
RefSeqiNP_001095270.1. NM_001101800.2. [Q9NYF5-2]
NP_001095271.1. NM_001101801.2. [Q9NYF5-3]
NP_057687.2. NM_016603.3. [Q9NYF5-1]
UniGeneiHs.567453.

Genome annotation databases

EnsembliENST00000033079; ENSP00000033079; ENSG00000031003. [Q9NYF5-1]
ENST00000420893; ENSP00000388521; ENSG00000031003. [Q9NYF5-2]
ENST00000425075; ENSP00000394669; ENSG00000031003. [Q9NYF5-3]
GeneIDi51306.
KEGGihsa:51306.
UCSCiuc003lbz.3. human. [Q9NYF5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF251038 mRNA. Translation: AAF63764.1.
AC106753 Genomic DNA. No translation available.
AC113382 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW62170.1.
CH471062 Genomic DNA. Translation: EAW62171.1.
CH471062 Genomic DNA. Translation: EAW62172.1.
CH471062 Genomic DNA. Translation: EAW62173.1.
BC041335 mRNA. No translation available.
BC048965 mRNA. Translation: AAH48965.1.
BC056887 mRNA. Translation: AAH56887.1.
AF157316 mRNA. Translation: AAF67482.1. Sequence problems.
CCDSiCCDS4195.1. [Q9NYF5-1]
CCDS47269.1. [Q9NYF5-2]
CCDS47270.1. [Q9NYF5-3]
PIRiB59433.
RefSeqiNP_001095270.1. NM_001101800.2. [Q9NYF5-2]
NP_001095271.1. NM_001101801.2. [Q9NYF5-3]
NP_057687.2. NM_016603.3. [Q9NYF5-1]
UniGeneiHs.567453.

3D structure databases

ProteinModelPortaliQ9NYF5.
SMRiQ9NYF5. Positions 16-215.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119457. 6 interactions.
IntActiQ9NYF5. 3 interactions.
STRINGi9606.ENSP00000033079.

PTM databases

iPTMnetiQ9NYF5.
PhosphoSiteiQ9NYF5.

Polymorphism and mutation databases

BioMutaiFAM13B.
DMDMi116241292.

Proteomic databases

EPDiQ9NYF5.
MaxQBiQ9NYF5.
PaxDbiQ9NYF5.
PRIDEiQ9NYF5.

Protocols and materials databases

DNASUi51306.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000033079; ENSP00000033079; ENSG00000031003. [Q9NYF5-1]
ENST00000420893; ENSP00000388521; ENSG00000031003. [Q9NYF5-2]
ENST00000425075; ENSP00000394669; ENSG00000031003. [Q9NYF5-3]
GeneIDi51306.
KEGGihsa:51306.
UCSCiuc003lbz.3. human. [Q9NYF5-1]

Organism-specific databases

CTDi51306.
GeneCardsiFAM13B.
H-InvDBHIX0005204.
HGNCiHGNC:1335. FAM13B.
HPAiHPA036525.
HPA041819.
MIMi609371. gene.
neXtProtiNX_Q9NYF5.
PharmGKBiPA25916.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4270. Eukaryota.
ENOG410XRR2. LUCA.
GeneTreeiENSGT00440000037511.
HOGENOMiHOG000112468.
HOVERGENiHBG051529.
InParanoidiQ9NYF5.
OMAiGEGSNNQ.
OrthoDBiEOG7VDXNT.
PhylomeDBiQ9NYF5.
TreeFamiTF328895.

Enzyme and pathway databases

ReactomeiR-HSA-194840. Rho GTPase cycle.

Miscellaneous databases

ChiTaRSiFAM13B. human.
GenomeRNAii51306.
PROiQ9NYF5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NYF5.
ExpressionAtlasiQ9NYF5. baseline and differential.
GenevisibleiQ9NYF5. HS.

Family and domain databases

Gene3Di1.10.555.10. 1 hit.
InterProiIPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
[Graphical view]
PfamiPF00620. RhoGAP. 1 hit.
[Graphical view]
SMARTiSM00324. RhoGAP. 1 hit.
[Graphical view]
SUPFAMiSSF48350. SSF48350. 1 hit.
PROSITEiPS50238. RHOGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "cDNA cloning and genomic structure of three genes localized to human chromosome band 5q31 encoding potential nuclear proteins."
    Lai F., Godley L.A., Fernald A.A., Orelli B.J., Pamintuan L., Zhao N., Le Beau M.M.
    Genomics 70:123-130(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
    Tissue: Skin and Testis.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 728-915.
    Tissue: Adrenal gland.

Entry informationi

Entry nameiFA13B_HUMAN
AccessioniPrimary (citable) accession number: Q9NYF5
Secondary accession number(s): D3DQB5
, G3V0H9, Q3ZCR0, Q6PGQ2, Q9P0I7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: October 17, 2006
Last modified: June 8, 2016
This is version 123 of the entry and version 2 of the sequence. [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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.