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Protein

KIF1-binding protein

Gene

KIF1BP

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

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

GO - Molecular functioni

  • kinesin binding Source: UniProtKB

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • mitochondrial transport Source: UniProtKB
  • nervous system development Source: UniProtKB-KW

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Neurogenesis

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

EuPathDBiHostDB:ENSG00000198954.6
HGNCiHGNC:23419 KIF1BP
MIMi609367 gene
neXtProtiNX_Q96EK5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
MalaCardsiKIF1BP
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
ProteomicsDBi76417

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

Show more details

GO - Molecular functioni

  • kinesin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi117567, 69 interactors
IntActiQ96EK5, 27 interactors
MINTiQ96EK5
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
OrthoDBiEOG091G063S
PhylomeDBiQ96EK5
TreeFamiTF324211

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR022083 KBP
IPR011990 TPR-like_helical_dom_sf
PANTHERiPTHR20956:SF15 PTHR20956:SF15, 1 hit
PfamiView protein in Pfam
PF12309 KBP_C, 1 hit
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 → S1 PublicationCorresponds to variant dbSNP:rs2255607EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB033105 mRNA Translation: BAA86593.1 Different initiation.
AL359844 Genomic DNA No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiKBP_HUMAN
AccessioniPrimary (citable) accession number: Q96EK5
Secondary accession number(s): A8K5M8
, Q9BR89, Q9ULE1, Q9Y428
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: December 1, 2001
Last modified: July 18, 2018
This is version 141 of the entry and version 1 of the sequence. See 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

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

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