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Protein

Protein FAM13C

Gene

FAM13C

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM13C
Gene namesi
Name:FAM13C
Synonyms:FAM13C1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:19371. FAM13C.

Pathology & Biotechi

Organism-specific databases

DisGeNETi220965.
OpenTargetsiENSG00000148541.
PharmGKBiPA164719657.

Polymorphism and mutation databases

BioMutaiFAM13C.
DMDMi215273980.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000589221 – 585Protein FAM13CAdd BLAST585

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei131PhosphoserineBy similarity1
Modified residuei238PhosphoserineBy similarity1
Modified residuei385PhosphoserineBy similarity1
Modified residuei386PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8NE31.
PeptideAtlasiQ8NE31.
PRIDEiQ8NE31.

PTM databases

iPTMnetiQ8NE31.
PhosphoSitePlusiQ8NE31.

Expressioni

Gene expression databases

BgeeiENSG00000148541.
ExpressionAtlasiQ8NE31. baseline and differential.
GenevisibleiQ8NE31. HS.

Organism-specific databases

HPAiHPA037888.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC172P0C7W63EBI-751248,EBI-2548868
CEP70Q8NHQ13EBI-751248,EBI-739624
DVL3Q929973EBI-751248,EBI-739789
HMBOX1Q6NT763EBI-751248,EBI-2549423
KIF2AO001393EBI-751248,EBI-2692369
MED4Q9NPJ63EBI-751248,EBI-394607
MEOX2A4D1273EBI-751248,EBI-10172134
MTUS2Q5JR593EBI-751248,EBI-742948
PHC2Q8IXK03EBI-751248,EBI-713786
SDCBP2Q9H1903EBI-751248,EBI-742426
TFIP11Q9UBB93EBI-751248,EBI-1105213

Protein-protein interaction databases

BioGridi128665. 17 interactors.
IntActiQ8NE31. 12 interactors.
MINTiMINT-1457327.
STRINGi9606.ENSP00000362975.

Structurei

3D structure databases

ProteinModelPortaliQ8NE31.
SMRiQ8NE31.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM13 family.Curated

Phylogenomic databases

eggNOGiENOG410IJJ8. Eukaryota.
ENOG410YAKN. LUCA.
GeneTreeiENSGT00440000037511.
HOGENOMiHOG000112468.
HOVERGENiHBG051530.
InParanoidiQ8NE31.
PhylomeDBiQ8NE31.
TreeFamiTF328895.

Sequences (5)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8NE31-1) [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
MFSCFCFSLQ DNSFSSTTVT ECDEDPVSLH EDQTDCSSLR DENNKENYPD
60 70 80 90 100
AGALVEEHAP PSWEPQQQNV EATVLVDSVL RPSMGNFKSR KPKSIFKAES
110 120 130 140 150
GRSHGESQET EHVVSSQSEC QVRAGTPAHE SPQNNAFKCQ ETVRLQPRID
160 170 180 190 200
QRTAISPKDA FETRQDLNEE EAAQVHGVKD PAPASTQSVL ADGTDSADPS
210 220 230 240 250
PVHKDGQNEA DSAPEDLHSV GTSRLLYHIT DGDNPLLSPR CSIFSQSQRF
260 270 280 290 300
NLDPESAPSP PSTQQFMMPR SSSRCSCGDG KEPQTITQLT KHIQSLKRKI
310 320 330 340 350
RKFEEKFEQE KKYRPSHGDK TSNPEVLKWM NDLAKGRKQL KELKLKLSEE
360 370 380 390 400
QGSAPKGPPR NLLCEQPTVP RENGKPEAAG PEPSSSGEET PDAALTCLKE
410 420 430 440 450
RREQLPPQED SKVTKQDKNL IKPLYDRYRI IKQILSTPSL IPTIQEEEDS
460 470 480 490 500
DEDRPQGSQQ PSLADPASHL PVGDHLTYSN ETEPVRALLP DEKKEVKPPA
510 520 530 540 550
LSMSNLHEAT MPVLLDHLRE TRADKKRLRK ALREFEEQFF KQTGRSPQKE
560 570 580
DRIPMADEYY EYKHIKAKLR LLEVLISKQD VAKTI
Length:585
Mass (Da):65,727
Last modified:November 25, 2008 - v2
Checksum:i209AA62323588462
GO
Isoform 2 (identifier: Q8NE31-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     445-458: QEEEDSDEDRPQGS → VSQDTCMLLLCTDV
     459-585: Missing.

Show »
Length:458
Mass (Da):50,936
Checksum:i999B283F4CAD11A9
GO
Isoform 3 (identifier: Q8NE31-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     315-412: Missing.

Show »
Length:487
Mass (Da):55,007
Checksum:iA056D4B9E7A78F92
GO
Isoform 4 (identifier: Q8NE31-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-83: Missing.

Show »
Length:502
Mass (Da):56,476
Checksum:i1D776CDD6F2D5C81
GO
Isoform 5 (identifier: Q8NE31-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-83: Missing.
     445-445: Missing.

Note: No experimental confirmation available.
Show »
Length:501
Mass (Da):56,348
Checksum:i2EE7AD71583AFD64
GO

Sequence cautioni

The sequence CAI15709 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04766182P → H.1 PublicationCorresponds to variant rs17853626dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0442861 – 83Missing in isoform 4 and isoform 5. 1 PublicationAdd BLAST83
Alternative sequenceiVSP_035840315 – 412Missing in isoform 3. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_035841445 – 458QEEED…RPQGS → VSQDTCMLLLCTDV in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_045812445Missing in isoform 5. Curated1
Alternative sequenceiVSP_035842459 – 585Missing in isoform 2. 1 PublicationAdd BLAST127

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK316542 mRNA. Translation: BAH14913.1.
AL355474, AC025038 Genomic DNA. Translation: CAI15709.1. Sequence problems.
CH471083 Genomic DNA. Translation: EAW54190.1.
BC036453 mRNA. Translation: AAH36453.1.
BC064431 mRNA. Translation: AAH64431.1.
U79304 mRNA. Translation: AAB50228.1.
CCDSiCCDS31207.1. [Q8NE31-3]
CCDS44406.1. [Q8NE31-4]
CCDS53538.1. [Q8NE31-5]
CCDS7255.1. [Q8NE31-1]
RefSeqiNP_001001971.1. NM_001001971.2. [Q8NE31-3]
NP_001137245.1. NM_001143773.1. [Q8NE31-4]
NP_001160170.1. NM_001166698.1. [Q8NE31-5]
NP_937858.2. NM_198215.3. [Q8NE31-1]
XP_006717765.1. XM_006717702.3. [Q8NE31-4]
XP_006717766.1. XM_006717703.3. [Q8NE31-4]
XP_016871374.1. XM_017015885.1. [Q8NE31-4]
XP_016871375.1. XM_017015886.1. [Q8NE31-5]
XP_016871376.1. XM_017015887.1. [Q8NE31-5]
XP_016871377.1. XM_017015888.1. [Q8NE31-5]
XP_016871378.1. XM_017015889.1. [Q8NE31-5]
UniGeneiHs.607594.

Genome annotation databases

EnsembliENST00000422313; ENSP00000400241; ENSG00000148541. [Q8NE31-2]
ENST00000468840; ENSP00000423896; ENSG00000148541. [Q8NE31-4]
ENST00000611933; ENSP00000481830; ENSG00000148541. [Q8NE31-3]
ENST00000618427; ENSP00000480677; ENSG00000148541. [Q8NE31-5]
ENST00000618804; ENSP00000481854; ENSG00000148541. [Q8NE31-1]
GeneIDi220965.
KEGGihsa:220965.
UCSCiuc001jkp.4. human. [Q8NE31-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK316542 mRNA. Translation: BAH14913.1.
AL355474, AC025038 Genomic DNA. Translation: CAI15709.1. Sequence problems.
CH471083 Genomic DNA. Translation: EAW54190.1.
BC036453 mRNA. Translation: AAH36453.1.
BC064431 mRNA. Translation: AAH64431.1.
U79304 mRNA. Translation: AAB50228.1.
CCDSiCCDS31207.1. [Q8NE31-3]
CCDS44406.1. [Q8NE31-4]
CCDS53538.1. [Q8NE31-5]
CCDS7255.1. [Q8NE31-1]
RefSeqiNP_001001971.1. NM_001001971.2. [Q8NE31-3]
NP_001137245.1. NM_001143773.1. [Q8NE31-4]
NP_001160170.1. NM_001166698.1. [Q8NE31-5]
NP_937858.2. NM_198215.3. [Q8NE31-1]
XP_006717765.1. XM_006717702.3. [Q8NE31-4]
XP_006717766.1. XM_006717703.3. [Q8NE31-4]
XP_016871374.1. XM_017015885.1. [Q8NE31-4]
XP_016871375.1. XM_017015886.1. [Q8NE31-5]
XP_016871376.1. XM_017015887.1. [Q8NE31-5]
XP_016871377.1. XM_017015888.1. [Q8NE31-5]
XP_016871378.1. XM_017015889.1. [Q8NE31-5]
UniGeneiHs.607594.

3D structure databases

ProteinModelPortaliQ8NE31.
SMRiQ8NE31.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128665. 17 interactors.
IntActiQ8NE31. 12 interactors.
MINTiMINT-1457327.
STRINGi9606.ENSP00000362975.

PTM databases

iPTMnetiQ8NE31.
PhosphoSitePlusiQ8NE31.

Polymorphism and mutation databases

BioMutaiFAM13C.
DMDMi215273980.

Proteomic databases

PaxDbiQ8NE31.
PeptideAtlasiQ8NE31.
PRIDEiQ8NE31.

Protocols and materials databases

DNASUi220965.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000422313; ENSP00000400241; ENSG00000148541. [Q8NE31-2]
ENST00000468840; ENSP00000423896; ENSG00000148541. [Q8NE31-4]
ENST00000611933; ENSP00000481830; ENSG00000148541. [Q8NE31-3]
ENST00000618427; ENSP00000480677; ENSG00000148541. [Q8NE31-5]
ENST00000618804; ENSP00000481854; ENSG00000148541. [Q8NE31-1]
GeneIDi220965.
KEGGihsa:220965.
UCSCiuc001jkp.4. human. [Q8NE31-1]

Organism-specific databases

CTDi220965.
DisGeNETi220965.
GeneCardsiFAM13C.
H-InvDBHIX0025949.
HGNCiHGNC:19371. FAM13C.
HPAiHPA037888.
neXtProtiNX_Q8NE31.
OpenTargetsiENSG00000148541.
PharmGKBiPA164719657.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJJ8. Eukaryota.
ENOG410YAKN. LUCA.
GeneTreeiENSGT00440000037511.
HOGENOMiHOG000112468.
HOVERGENiHBG051530.
InParanoidiQ8NE31.
PhylomeDBiQ8NE31.
TreeFamiTF328895.

Miscellaneous databases

GenomeRNAii220965.
PROiQ8NE31.

Gene expression databases

BgeeiENSG00000148541.
ExpressionAtlasiQ8NE31. baseline and differential.
GenevisibleiQ8NE31. HS.

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiFA13C_HUMAN
AccessioniPrimary (citable) accession number: Q8NE31
Secondary accession number(s): B7ZB77
, Q5T631, Q6P2M3, Q99787
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: November 25, 2008
Last modified: November 2, 2016
This is version 106 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 10
    Human chromosome 10: 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. 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.