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Q96EK5 (KBP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
KIF1-binding protein
Gene names
Name:KIAA1279
Synonyms:KBP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length621 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development. Ref.1 Ref.9 Ref.11

Subunit structure

Interacts with KIF1B. Interacts with STMN2. Ref.1 Ref.9

Subcellular location

Cytoplasmcytoskeleton Ref.1 Ref.9 Ref.11.

Tissue specificity

Highly expressed in heart, brain, ovary, testis, spinal cord and all specific brain regions examined. Moderate expressed at intermediate level in all other adult tissues examined, as well as in fetal liver and brain. Not expressed in blood leukocytes. Ref.1 Ref.2

Involvement in disease

Goldberg-Shprintzen megacolon syndrome (GOSHS) [MIM:609460]: A disorder characterized by Hirschsprung disease, microcephaly, hypertelorism, submucous cleft palate, short stature, and developmental delay.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.11

Sequence similarities

Belongs to the KIF1-binding protein family.

Caution

Was originally shown to localize in the mitochondrion and to play a role in mitochondrial transport (Ref.1). Recent articles, however, have shown that it does not localize to mitochondria, it interacts with the cytoskeleton and does not have a role in mitochondrial function (Ref.9, Ref.11).

Sequence caution

The sequence BAA86593.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processDifferentiation
Neurogenesis
   Cellular componentCytoplasm
Cytoskeleton
   Coding sequence diversityPolymorphism
   DiseaseHirschsprung disease
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrial transport

Inferred from mutant phenotype Ref.1. Source: UniProtKB

nervous system development

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoskeleton

Inferred from electronic annotation. Source: UniProtKB-SubCell

mitochondrion

Inferred from direct assay Ref.1. Source: UniProtKB

   Molecular_functionkinesin binding

Inferred from physical interaction Ref.1. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 16189514. Source: IntAct

Complete GO annotation...

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 621621KIF1-binding protein
PRO_0000050791

Natural variations

Natural variant661G → S. Ref.2
Corresponds to variant rs2255607 [ dbSNP | Ensembl ].
VAR_023311

Experimental info

Sequence conflict1391I → T in BAF84032. Ref.4
Sequence conflict3341G → A in BAF84032. Ref.4
Sequence conflict4191H → R in BAF84032. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q96EK5 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: DA86308364D31335

FASTA62171,814
        10         20         30         40         50         60 
MANVPWAEVC EKFQAALALS RVELHKNPEK EPYKSKYSAR ALLEEVKALL GPAPEDEDER 

        70         80         90        100        110        120 
PEAEDGPGAG DHALGLPAEV VEPEGPVAQR AVRLAVIEFH LGVNHIDTEE LSAGEEHLVK 

       130        140        150        160        170        180 
CLRLLRRYRL SHDCISLCIQ AQNNLGILWS EREEIETAQA YLESSEALYN QYMKEVGSPP 

       190        200        210        220        230        240 
LDPTERFLPE EEKLTEQERS KRFEKVYTHN LYYLAQVYQH LEMFEKAAHY CHSTLKRQLE 

       250        260        270        280        290        300 
HNAYHPIEWA INAATLSQFY INKLCFMEAR HCLSAANVIF GQTGKISATE DTPEAEGEVP 

       310        320        330        340        350        360 
ELYHQRKGEI ARCWIKYCLT LMQNAQLSMQ DNIGELDLDK QSELRALRKK ELDEEESIRK 

       370        380        390        400        410        420 
KAVQFGTGEL CDAISAVEEK VSYLRPLDFE EARELFLLGQ HYVFEAKEFF QIDGYVTDHI 

       430        440        450        460        470        480 
EVVQDHSALF KVLAFFETDM ERRCKMHKRR IAMLEPLTVD LNPQYYLLVN RQIQFEIAHA 

       490        500        510        520        530        540 
YYDMMDLKVA IADRLRDPDS HIVKKINNLN KSALKYYQLF LDSLRDPNKV FPEHIGEDVL 

       550        560        570        580        590        600 
RPAMLAKFRV ARLYGKIITA DPKKELENLA TSLEHYKFIV DYCEKHPEAA QEIEVELELS 

       610        620 
KEMVSLLPTK MERFRTKMAL T 

« Hide

References

« Hide 'large scale' references
[1]"The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein."
Wozniak M.J., Melzer M., Dorner C., Haring H.U., Lammers R.
BMC Cell Biol. 6:35-35(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH KIF1B, FUNCTION.
[2]"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.
DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], TISSUE SPECIFICITY, VARIANT SER-66.
Tissue: Brain.
[3]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Tongue.
[5]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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].
Tissue: Lung.
[7]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 314-621.
Tissue: Uterus.
[8]"Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems."
Brooks A.S., Bertoli-Avella A.M., Burzynski G.M., Breedveld G.J., Osinga J., Boven L.G., Hurst J.A., Mancini G.M.S., Lequin M.H., de Coo R.F., Matera I., de Graaff E., Meijers C., Willems P.J., Tibboel D., Oostra B.A., Hofstra R.M.W.
Am. J. Hum. Genet. 77:120-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN GOSHS.
[9]"KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation."
Alves M.M., Burzynski G., Delalande J.M., Osinga J., van der Goot A., Dolga A.M., de Graaff E., Brooks A.S., Metzger M., Eisel U.L., Shepherd I., Eggen B.J., Hofstra R.M.
Hum. Mol. Genet. 19:3642-3651(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH STMN2, SUBCELLULAR LOCATION.
[10]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome."
Drevillon L., Megarbane A., Demeer B., Matar C., Benit P., Briand-Suleau A., Bodereau V., Ghoumid J., Nasser M., Decrouy X., Doco-Fenzy M., Rustin P., Gaillard D., Goossens M., Giurgea I.
Hum. Mol. Genet. 22:2387-2399(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN GOSHS, FUNCTION, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB033105 mRNA. Translation: BAA86593.1. Different initiation.
AL359844 Genomic DNA. Translation: CAH72378.1.
AK291343 mRNA. Translation: BAF84032.1.
BC012180 mRNA. Translation: AAH12180.1.
AL050190 mRNA. Translation: CAB43311.1.
CCDSCCDS7284.1.
PIRT08798.
RefSeqNP_056449.1. NM_015634.3.
UniGeneHs.279580.

3D structure databases

ProteinModelPortalQ96EK5.
SMRQ96EK5. Positions 208-236.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117567. 35 interactions.
IntActQ96EK5. 12 interactions.
MINTMINT-5006557.
STRING9606.ENSP00000354848.

PTM databases

PhosphoSiteQ96EK5.

Polymorphism databases

DMDM73920081.

Proteomic databases

MaxQBQ96EK5.
PaxDbQ96EK5.
PeptideAtlasQ96EK5.
PRIDEQ96EK5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361983; ENSP00000354848; ENSG00000198954.
GeneID26128.
KEGGhsa:26128.
UCSCuc001joy.3. human.

Organism-specific databases

CTD26128.
GeneCardsGC10P070748.
H-InvDBHIX0008881.
HGNCHGNC:23419. KIAA1279.
HPAHPA035538.
HPA035539.
MIM609367. gene.
609460. phenotype.
neXtProtNX_Q96EK5.
Orphanet66629. Goldberg-Shprintzen megacolon syndrome.
PharmGKBPA134897614.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG74570.
HOGENOMHOG000047429.
HOVERGENHBG108054.
InParanoidQ96EK5.
OMAYEMMDLK.
OrthoDBEOG7PP564.
PhylomeDBQ96EK5.
TreeFamTF324211.

Gene expression databases

BgeeQ96EK5.
CleanExHS_KIAA1279.
GenevestigatorQ96EK5.

Family and domain databases

Gene3D1.25.40.10. 2 hits.
InterProIPR022083. KBP.
IPR011990. TPR-like_helical.
[Graphical view]
PANTHERPTHR20956:SF0. PTHR20956:SF0. 1 hit.
PfamPF12309. KBP_C. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKIAA1279.
GenomeRNAi26128.
NextBio48149.
SOURCESearch...

Entry information

Entry nameKBP_HUMAN
AccessionPrimary (citable) accession number: Q96EK5
Secondary accession number(s): A8K5M8 expand/collapse secondary AC list , Q9BR89, Q9ULE1, Q9Y428
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 105 of the entry and version 1 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

SIMILARITY comments

Index of protein domains and families

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 10

Human chromosome 10: entries, gene names and cross-references to MIM