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Q9P2H0 (K1377_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Uncharacterized protein KIAA1377
Gene names
Name:KIAA1377
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1117 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May participate in cytokinesis. Ref.3

Subcellular location

Midbody Ref.3.

Tissue specificity

Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary. Ref.2

Miscellaneous

Depletion of KIAA1377 by siRNA results in an increase in cytokinesis aberrant cells (Ref.3).

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentmidbody

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 15383276. Source: IntAct

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11171117Uncharacterized protein KIAA1377
PRO_0000248831

Regions

Coiled coil49 – 12173 Potential

Natural variations

Natural variant1781A → T.
Corresponds to variant rs11225086 [ dbSNP | Ensembl ].
VAR_027363
Natural variant2381G → C. Ref.1 Ref.2
Corresponds to variant rs7926728 [ dbSNP | Ensembl ].
VAR_027364
Natural variant2751S → Y.
Corresponds to variant rs11225089 [ dbSNP | Ensembl ].
VAR_027365
Natural variant2811I → T.
Corresponds to variant rs11225090 [ dbSNP | Ensembl ].
VAR_027366
Natural variant3021A → T.
Corresponds to variant rs11225091 [ dbSNP | Ensembl ].
VAR_027367
Natural variant6681G → S May be associated with susceptibility to monomelic amyotrophy. Ref.4
Corresponds to variant rs76022391 [ dbSNP | Ensembl ].
VAR_068173
Natural variant7101P → S.
Corresponds to variant rs7109614 [ dbSNP | Ensembl ].
VAR_027368
Natural variant10211M → T.
Corresponds to variant rs7111429 [ dbSNP | Ensembl ].
VAR_027369
Natural variant10771S → N. Ref.1 Ref.2
Corresponds to variant rs6590942 [ dbSNP | Ensembl ].
VAR_027370

Sequences

Sequence LengthMass (Da)Tools
Q9P2H0 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: EF181D0177691D00

FASTA1,117125,870
        10         20         30         40         50         60 
MLAGRPGTRS AVGELGTESS DNLDRAPLGP RESGGHHRPG SYLDMKIHLE KNLEEERQIL 

        70         80         90        100        110        120 
LQQQKICRNR ARKYFVESNR RKKAFEEKRK EQEEKEHQIR EQILQQRKQK FEEVTEKFQR 

       130        140        150        160        170        180 
AHVPLSQRRK AVSRKPVPPL EEALKQIQES NLKSEVNLPF SRRPTINWRA IDSALPSALS 

       190        200        210        220        230        240 
KNDHKHQKQL LSKINCEKEM NENMRATLAT SKNVFQLKLE ETQKLLEDQH LSNLQKFGDE 

       250        260        270        280        290        300 
VNQITNSETL SSIDSLEATE HEEIYLTLNK EHSTSIQRNT ISLKPANMQS TNLSCFDEDK 

       310        320        330        340        350        360 
LAFSKTQHIN NWLTNLDASN TQNVTAFSDI LSKSNVLPSW EYFNSKEQNP SPLNGTVERA 

       370        380        390        400        410        420 
TNTANNSVPF VSSPPMFVLD KKCEKTSETS TMRTTDSTSG AFKRERPLVT ESPTFKFSKS 

       430        440        450        460        470        480 
QSTSDSLTQE VATFPDQEKY SELNQENGTT SIPTSCVPVA TPLVLPSNIQ SARPSAKNSI 

       490        500        510        520        530        540 
HIKEIDAVQC SDKLDELKDG KEEEIKYFNC NKEELPLFSD SFQDAYIPHN PDSKDEKQKL 

       550        560        570        580        590        600 
AETSSLSNVT SNYDFVGQHK KMKYNIHERN GVRFLKSILK KESKYEHGYL KALIINQSFK 

       610        620        630        640        650        660 
FGNQKAAAIR DSIELTKEKG AEIPKTIKKL RWFDETSNIE NNAENSHSLK NKTGTTQQHS 

       670        680        690        700        710        720 
QQFHIQSGAG SNIISVSTCA VNSADTKKSR EDSISENVTT LGGSGADHMP LNCFIPSGYN 

       730        740        750        760        770        780 
FAKHAWPASK KEESKIPVHD DSKTKQGKPQ RGRAKIIRKP GSAKVQSGFI CTNRKGAVIQ 

       790        800        810        820        830        840 
PQSASKVNIF TQAQGKLIIP CPPPQSTSNI RSGKNIQVSQ CQPVTPENPQ NIITHNSFNS 

       850        860        870        880        890        900 
KHVLPTEHSL NQWNQESSSP LSNACSDLVT VIPSLPSYCS SECQTFAKIN HSNGTQAVAR 

       910        920        930        940        950        960 
QDATLYCTQR SPVCEESYPS VTLRTAEEES VPLWKRGPNV LHQNKRATGS TVMRRKRIAE 

       970        980        990       1000       1010       1020 
TKRRNILEQK RQNPGSVGQK YSEQINNFGQ SVLLSSSEPK QTTRGTSYIE EVSDSTSEFL 

      1030       1040       1050       1060       1070       1080 
MAENLVKASV PEDEILTVLN SKQIQKSNLP LNKTQQFNIC TLSAEEQKIL ESLNDLSERL 

      1090       1100       1110 
HYIQESICKN PSIKNTLQII PLLEKREDRT SSCRDKR 

« Hide

References

« Hide 'large scale' references
[1]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS CYS-238 AND ASN-1077.
[2]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 130-1117, TISSUE SPECIFICITY, VARIANTS CYS-238 AND ASN-1077.
Tissue: Brain.
[3]"From midbody protein-protein interaction network construction to novel regulators in cytokinesis."
Chen T.C., Lee S.A., Hong T.M., Shih J.Y., Lai J.M., Chiou H.Y., Yang S.C., Chan C.H., Kao C.Y., Yang P.C., Huang C.Y.
J. Proteome Res. 8:4943-4953(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[4]"Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy."
Lim Y.M., Koh I., Park Y.M., Kim J.J., Kim D.S., Kim H.J., Baik K.H., Choi H.Y., Yang G.S., Also-Rallo E., Tizzano E.F., Gamez J., Park K., Yoo H.W., Lee J.K., Kim K.K.
Neuromuscul. Disord. 22:394-400(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SER-668.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AP003383 Genomic DNA. No translation available.
AB037798 mRNA. Translation: BAA92615.1.
RefSeqNP_065853.3. NM_020802.3.
UniGeneHs.156352.

3D structure databases

ProteinModelPortalQ9P2H0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121617. 77 interactions.
IntActQ9P2H0. 92 interactions.
MINTMINT-1425828.
STRING9606.ENSP00000263468.

PTM databases

PhosphoSiteQ9P2H0.

Polymorphism databases

DMDM296439319.

Proteomic databases

PaxDbQ9P2H0.
PRIDEQ9P2H0.

Protocols and materials databases

DNASU57562.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263468; ENSP00000263468; ENSG00000110318.
GeneID57562.
KEGGhsa:57562.
UCSCuc001pgm.3. human.

Organism-specific databases

CTD57562.
GeneCardsGC11P101819.
HGNCHGNC:29264. KIAA1377.
HPAHPA038381.
HPA038399.
MIM614634. gene.
neXtProtNX_Q9P2H0.
Orphanet65684. Monomelic amyotrophy.
PharmGKBPA143485517.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG84728.
HOGENOMHOG000113165.
HOVERGENHBG081836.
InParanoidQ9P2H0.
OMASERLHYI.
OrthoDBEOG7JHM4Q.
PhylomeDBQ9P2H0.
TreeFamTF336632.

Gene expression databases

ArrayExpressQ9P2H0.
BgeeQ9P2H0.
CleanExHS_KIAA1377.
GenevestigatorQ9P2H0.

Family and domain databases

InterProIPR028257. KIAA1377.
[Graphical view]
PfamPF15352. K1377. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKIAA1377.
GenomeRNAi57562.
NextBio64066.
SOURCESearch...

Entry information

Entry nameK1377_HUMAN
AccessionPrimary (citable) accession number: Q9P2H0
Secondary accession number(s): Q4G0U6
Entry history
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 82 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM