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Protein

KIF1-binding protein

Gene

KIF1BP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • kinesin binding Source: UniProtKB

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • mitochondrial transport Source: UniProtKB
  • nervous system development Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis

Enzyme and pathway databases

BioCyciZFISH:G66-31793-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
KIF1-binding protein1 Publication
Gene namesi
Name:KIF1BPImported
Synonyms:KBP1 Publication, KIAA12791 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23419. KIF1BP.

Subcellular locationi

GO - Cellular componenti

  • cytoskeleton Source: UniProtKB-SubCell
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Goldberg-Shprintzen syndrome (GOSHS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease.
See also OMIM:609460

Keywords - Diseasei

Hirschsprung disease

Organism-specific databases

DisGeNETi26128.
MIMi609460. phenotype.
OpenTargetsiENSG00000198954.
Orphaneti66629. Goldberg-Shprintzen megacolon syndrome.
PharmGKBiPA134897614.

Polymorphism and mutation databases

BioMutaiKIAA1279.
DMDMi73920081.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000507911 – 621KIF1-binding proteinAdd BLAST621

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei178PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96EK5.
MaxQBiQ96EK5.
PaxDbiQ96EK5.
PeptideAtlasiQ96EK5.
PRIDEiQ96EK5.

PTM databases

iPTMnetiQ96EK5.
PhosphoSitePlusiQ96EK5.

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

BgeeiENSG00000198954.
CleanExiHS_KIAA1279.
ExpressionAtlasiQ96EK5. baseline and differential.
GenevisibleiQ96EK5. HS.

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

GO - Molecular functioni

  • kinesin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi117567. 68 interactors.
IntActiQ96EK5. 22 interactors.
MINTiMINT-5006557.
STRINGi9606.ENSP00000354848.

Structurei

3D structure databases

ProteinModelPortaliQ96EK5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the KIF1-binding protein family.Curated

Phylogenomic databases

eggNOGiENOG410IE53. Eukaryota.
ENOG410XSW1. LUCA.
GeneTreeiENSGT00390000013819.
HOGENOMiHOG000047429.
HOVERGENiHBG108054.
InParanoidiQ96EK5.
OMAiYEMMDLK.
OrthoDBiEOG091G063S.
PhylomeDBiQ96EK5.
TreeFamiTF324211.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR022083. KBP.
IPR011990. TPR-like_helical_dom.
[Graphical view]
PANTHERiPTHR20956:SF0. PTHR20956:SF0. 2 hits.
PfamiPF12309. KBP_C. 1 hit.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.

Sequencei

Sequence statusi: Complete.

Q96EK5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MANVPWAEVC EKFQAALALS RVELHKNPEK EPYKSKYSAR ALLEEVKALL
60 70 80 90 100
GPAPEDEDER PEAEDGPGAG DHALGLPAEV VEPEGPVAQR AVRLAVIEFH
110 120 130 140 150
LGVNHIDTEE LSAGEEHLVK CLRLLRRYRL SHDCISLCIQ AQNNLGILWS
160 170 180 190 200
EREEIETAQA YLESSEALYN QYMKEVGSPP LDPTERFLPE EEKLTEQERS
210 220 230 240 250
KRFEKVYTHN LYYLAQVYQH LEMFEKAAHY CHSTLKRQLE HNAYHPIEWA
260 270 280 290 300
INAATLSQFY INKLCFMEAR HCLSAANVIF GQTGKISATE DTPEAEGEVP
310 320 330 340 350
ELYHQRKGEI ARCWIKYCLT LMQNAQLSMQ DNIGELDLDK QSELRALRKK
360 370 380 390 400
ELDEEESIRK KAVQFGTGEL CDAISAVEEK VSYLRPLDFE EARELFLLGQ
410 420 430 440 450
HYVFEAKEFF QIDGYVTDHI EVVQDHSALF KVLAFFETDM ERRCKMHKRR
460 470 480 490 500
IAMLEPLTVD LNPQYYLLVN RQIQFEIAHA YYDMMDLKVA IADRLRDPDS
510 520 530 540 550
HIVKKINNLN KSALKYYQLF LDSLRDPNKV FPEHIGEDVL RPAMLAKFRV
560 570 580 590 600
ARLYGKIITA DPKKELENLA TSLEHYKFIV DYCEKHPEAA QEIEVELELS
610 620
KEMVSLLPTK MERFRTKMAL T
Length:621
Mass (Da):71,814
Last modified:December 1, 2001 - v1
Checksum:iDA86308364D31335
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti139I → T in BAF84032 (PubMed:14702039).Curated1
Sequence conflicti334G → A in BAF84032 (PubMed:14702039).Curated1
Sequence conflicti419H → R in BAF84032 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02331166G → S.1 PublicationCorresponds to variant rs2255607dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ96EK5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117567. 68 interactors.
IntActiQ96EK5. 22 interactors.
MINTiMINT-5006557.
STRINGi9606.ENSP00000354848.

PTM databases

iPTMnetiQ96EK5.
PhosphoSitePlusiQ96EK5.

Polymorphism and mutation databases

BioMutaiKIAA1279.
DMDMi73920081.

Proteomic databases

EPDiQ96EK5.
MaxQBiQ96EK5.
PaxDbiQ96EK5.
PeptideAtlasiQ96EK5.
PRIDEiQ96EK5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361983; ENSP00000354848; ENSG00000198954.
GeneIDi26128.
KEGGihsa:26128.
UCSCiuc001joy.4. human.

Organism-specific databases

CTDi26128.
DisGeNETi26128.
GeneCardsiKIF1BP.
H-InvDBHIX0008881.
HGNCiHGNC:23419. KIF1BP.
HPAiHPA035538.
HPA035539.
MIMi609367. gene.
609460. phenotype.
neXtProtiNX_Q96EK5.
OpenTargetsiENSG00000198954.
Orphaneti66629. Goldberg-Shprintzen megacolon syndrome.
PharmGKBiPA134897614.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE53. Eukaryota.
ENOG410XSW1. LUCA.
GeneTreeiENSGT00390000013819.
HOGENOMiHOG000047429.
HOVERGENiHBG108054.
InParanoidiQ96EK5.
OMAiYEMMDLK.
OrthoDBiEOG091G063S.
PhylomeDBiQ96EK5.
TreeFamiTF324211.

Enzyme and pathway databases

BioCyciZFISH:G66-31793-MONOMER.

Miscellaneous databases

ChiTaRSiKIAA1279. human.
GeneWikiiKIAA1279.
GenomeRNAii26128.
PROiQ96EK5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198954.
CleanExiHS_KIAA1279.
ExpressionAtlasiQ96EK5. baseline and differential.
GenevisibleiQ96EK5. HS.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR022083. KBP.
IPR011990. TPR-like_helical_dom.
[Graphical view]
PANTHERiPTHR20956:SF0. PTHR20956:SF0. 2 hits.
PfamiPF12309. KBP_C. 1 hit.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
ProtoNetiSearch...

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: November 2, 2016
This is version 127 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 (PubMed:16225668). 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 (PubMed:20621975, PubMed:23427148).3 Publications

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

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.