SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q96EK5

- KBP_HUMAN

UniProt

Q96EK5 - KBP_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

KIF1-binding protein

Gene
KIAA1279, KBP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.3 Publications

GO - Molecular functioni

  1. kinesin binding Source: UniProtKB
  2. protein binding Source: IntAct

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. mitochondrial transport Source: UniProtKB
  3. nervous system development Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
KIF1-binding protein
Gene namesi
Synonyms:KBP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:23419. KIAA1279.

Subcellular locationi

Cytoplasmcytoskeleton 3 Publications

GO - Cellular componenti

  1. cytoskeleton Source: UniProtKB-SubCell
  2. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.2 Publications

Keywords - Diseasei

Hirschsprung disease

Organism-specific databases

MIMi609460. phenotype.
Orphaneti66629. Goldberg-Shprintzen megacolon syndrome.
PharmGKBiPA134897614.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 621621KIF1-binding proteinPRO_0000050791Add
BLAST

Proteomic databases

MaxQBiQ96EK5.
PaxDbiQ96EK5.
PeptideAtlasiQ96EK5.
PRIDEiQ96EK5.

PTM databases

PhosphoSiteiQ96EK5.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiQ96EK5.
CleanExiHS_KIAA1279.
GenevestigatoriQ96EK5.

Organism-specific databases

HPAiHPA035538.
HPA035539.

Interactioni

Subunit structurei

Interacts with KIF1B. Interacts with STMN2.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DPEP1P164442EBI-744150,EBI-749514
RGRP478042EBI-744150,EBI-745818

Protein-protein interaction databases

BioGridi117567. 35 interactions.
IntActiQ96EK5. 12 interactions.
MINTiMINT-5006557.
STRINGi9606.ENSP00000354848.

Structurei

3D structure databases

ProteinModelPortaliQ96EK5.
SMRiQ96EK5. Positions 208-236.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG74570.
HOGENOMiHOG000047429.
HOVERGENiHBG108054.
InParanoidiQ96EK5.
OMAiYEMMDLK.
OrthoDBiEOG7PP564.
PhylomeDBiQ96EK5.
TreeFamiTF324211.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR022083. KBP.
IPR011990. TPR-like_helical.
[Graphical view]
PANTHERiPTHR20956:SF0. PTHR20956:SF0. 1 hit.
PfamiPF12309. KBP_C. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96EK5-1 [UniParc]FASTAAdd to Basket

« Hide

MANVPWAEVC EKFQAALALS RVELHKNPEK EPYKSKYSAR ALLEEVKALL    50
GPAPEDEDER PEAEDGPGAG DHALGLPAEV VEPEGPVAQR AVRLAVIEFH 100
LGVNHIDTEE LSAGEEHLVK CLRLLRRYRL SHDCISLCIQ AQNNLGILWS 150
EREEIETAQA YLESSEALYN QYMKEVGSPP LDPTERFLPE EEKLTEQERS 200
KRFEKVYTHN LYYLAQVYQH LEMFEKAAHY CHSTLKRQLE HNAYHPIEWA 250
INAATLSQFY INKLCFMEAR HCLSAANVIF GQTGKISATE DTPEAEGEVP 300
ELYHQRKGEI ARCWIKYCLT LMQNAQLSMQ DNIGELDLDK QSELRALRKK 350
ELDEEESIRK KAVQFGTGEL CDAISAVEEK VSYLRPLDFE EARELFLLGQ 400
HYVFEAKEFF QIDGYVTDHI EVVQDHSALF KVLAFFETDM ERRCKMHKRR 450
IAMLEPLTVD LNPQYYLLVN RQIQFEIAHA YYDMMDLKVA IADRLRDPDS 500
HIVKKINNLN KSALKYYQLF LDSLRDPNKV FPEHIGEDVL RPAMLAKFRV 550
ARLYGKIITA DPKKELENLA TSLEHYKFIV DYCEKHPEAA QEIEVELELS 600
KEMVSLLPTK MERFRTKMAL T 621
Length:621
Mass (Da):71,814
Last modified:December 1, 2001 - v1
Checksum:iDA86308364D31335
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti66 – 661G → S.1 Publication
Corresponds to variant rs2255607 [ dbSNP | Ensembl ].
VAR_023311

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti139 – 1391I → T in BAF84032. 1 Publication
Sequence conflicti334 – 3341G → A in BAF84032. 1 Publication
Sequence conflicti419 – 4191H → R in BAF84032. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS7284.1.
PIRiT08798.
RefSeqiNP_056449.1. NM_015634.3.
UniGeneiHs.279580.

Genome annotation databases

EnsembliENST00000361983; ENSP00000354848; ENSG00000198954.
GeneIDi26128.
KEGGihsa:26128.
UCSCiuc001joy.3. human.

Polymorphism databases

DMDMi73920081.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS7284.1.
PIRi T08798.
RefSeqi NP_056449.1. NM_015634.3.
UniGenei Hs.279580.

3D structure databases

ProteinModelPortali Q96EK5.
SMRi Q96EK5. Positions 208-236.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117567. 35 interactions.
IntActi Q96EK5. 12 interactions.
MINTi MINT-5006557.
STRINGi 9606.ENSP00000354848.

PTM databases

PhosphoSitei Q96EK5.

Polymorphism databases

DMDMi 73920081.

Proteomic databases

MaxQBi Q96EK5.
PaxDbi Q96EK5.
PeptideAtlasi Q96EK5.
PRIDEi Q96EK5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361983 ; ENSP00000354848 ; ENSG00000198954 .
GeneIDi 26128.
KEGGi hsa:26128.
UCSCi uc001joy.3. human.

Organism-specific databases

CTDi 26128.
GeneCardsi GC10P070748.
H-InvDB HIX0008881.
HGNCi HGNC:23419. KIAA1279.
HPAi HPA035538.
HPA035539.
MIMi 609367. gene.
609460. phenotype.
neXtProti NX_Q96EK5.
Orphaneti 66629. Goldberg-Shprintzen megacolon syndrome.
PharmGKBi PA134897614.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG74570.
HOGENOMi HOG000047429.
HOVERGENi HBG108054.
InParanoidi Q96EK5.
OMAi YEMMDLK.
OrthoDBi EOG7PP564.
PhylomeDBi Q96EK5.
TreeFami TF324211.

Miscellaneous databases

GeneWikii KIAA1279.
GenomeRNAii 26128.
NextBioi 48149.
SOURCEi Search...

Gene expression databases

Bgeei Q96EK5.
CleanExi HS_KIAA1279.
Genevestigatori Q96EK5.

Family and domain databases

Gene3Di 1.25.40.10. 2 hits.
InterProi IPR022083. KBP.
IPR011990. TPR-like_helical.
[Graphical view ]
PANTHERi PTHR20956:SF0. PTHR20956:SF0. 1 hit.
Pfami PF12309. KBP_C. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 314-621.
    Tissue: Uterus.
  8. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. Cited for: INVOLVEMENT IN GOSHS, FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiKBP_HUMAN
AccessioniPrimary (citable) accession number: Q96EK5
Secondary accession number(s): A8K5M8
, Q9BR89, Q9ULE1, Q9Y428
Entry historyi
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 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

Caution

Was originally shown to localize in the mitochondrion and to play a role in mitochondrial transport (1 Publication). 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 (1 Publication, 1 Publication).

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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi