Q96EK5 (KBP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
KIF1-binding protein

Gene names

Name:	KIAA1279
Synonyms:	KBP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	621 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Regulates mitochondrial transport by modulating KIF1B motor activity. Ref.1
Subunit structure	Interacts with KIF1B. Ref.1
Subcellular location	Mitochondrion Ref.1.
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]: Characterized by microcephaly, mental retardation and facial dysmorphism, as well as phenotypes related to Hirschsprung disease syndrome. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8
Sequence similarities	Belongs to the KIF1-binding protein family.
Sequence caution	The sequence BAA86593.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell 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_component	mitochondrion Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DPEP1	P16444	2	EBI-744150,EBI-749514
RGR	P47804	2	EBI-744150,EBI-745818

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 621	621	KIF1-binding protein		PRO_0000050791
Natural variations
	Natural variant	66	1	G → S. Ref.2 Corresponds to variant rs2255607 [ dbSNP | Ensembl ].		VAR_023311
Experimental info
	Sequence conflict	139	1	I → T in BAF84032. Ref.4
	Sequence conflict	334	1	G → A in BAF84032. Ref.4
	Sequence conflict	419	1	H → R in BAF84032. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q96EK5 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: DA86308364D31335	FASTA	621	71,814
	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

References

	« Hide 'large scale' referencesShow '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. , 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]	"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]	"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].
+	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.
IPI	IPI00477355.
PIR	T08798.
RefSeq	NP_056449.1. NM_015634.3.
UniGene	Hs.279580.
3D structure databases
ProteinModelPortal	Q96EK5.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96EK5. 10 interactions.
MINT	MINT-5006557.
STRING	9606.ENSP00000354848.
PTM databases
PhosphoSite	Q96EK5.
Polymorphism databases
DMDM	73920081.
Proteomic databases
PaxDb	Q96EK5.
PeptideAtlas	Q96EK5.
PRIDE	Q96EK5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000361983; ENSP00000354848; ENSG00000198954.
GeneID	26128.
KEGG	hsa:26128.
UCSC	uc001joy.3. human.
Organism-specific databases
CTD	26128.
GeneCards	GC10P070748.
H-InvDB	HIX0008881.
HGNC	HGNC:23419. KIAA1279.
HPA	HPA035538.
MIM	609367. gene. 609460. phenotype.
neXtProt	NX_Q96EK5.
Orphanet	66629. Goldberg-Shprintzen megacolon syndrome.
PharmGKB	PA134897614.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG74570.
HOGENOM	HOG000047429.
HOVERGEN	HBG108054.
InParanoid	Q96EK5.
OMA	VTDHIEI.
OrthoDB	EOG48GW33.
Gene expression databases
Bgee	Q96EK5.
CleanEx	HS_KIAA1279.
Genevestigator	Q96EK5.
GermOnline	ENSG00000198954. Homo sapiens.
Family and domain databases
Gene3D	1.25.40.10. 2 hits.
InterPro	IPR022083. KBP. IPR011990. TPR-like_helical. [Graphical view]
PANTHER	PTHR20956. PTHR20956. 1 hit.
Pfam	PF12309. KBP_C. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	26128.
NextBio	48149.
SOURCE	Search...

Entry information

Entry name

KBP_HUMAN

Accession

Primary (citable) accession number: Q96EK5
Secondary accession number(s): A8K5M8 , Q9BR89, Q9ULE1, Q9Y428

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 30, 2005
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 93 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.