UniProtKB - Q96EK5 (KBP_HUMAN)
Protein
KIF-binding protein
Gene
KIFBP
Organism
Homo sapiens (Human)
Status
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 function | Developmental protein |
Biological process | Differentiation, Neurogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q96EK5 |
Names & Taxonomyi
Protein namesi | Recommended name: KIF-binding proteinAlternative name(s): KIF1-binding protein1 Publication Kinesin family binding proteinImported |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000198954.6 |
HGNCi | HGNC:23419, KIFBP |
MIMi | 609367, gene |
neXtProti | NX_Q96EK5 |
Subcellular locationi
Cytoskeleton
- cytoskeleton 3 Publications
Cytoskeleton
- cytoskeleton Source: UniProtKB-SubCell
Mitochondrion
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & 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.
Related information in OMIMKeywords - Diseasei
Hirschsprung diseaseOrganism-specific databases
DisGeNETi | 26128 |
MalaCardsi | KIFBP |
MIMi | 609460, phenotype |
OpenTargetsi | ENSG00000198954 |
Orphaneti | 66629, Goldberg-Shprintzen megacolon syndrome |
PharmGKBi | PA134897614 |
Miscellaneous databases
Pharosi | Q96EK5, Tbio |
Polymorphism and mutation databases
BioMutai | KIF1BP |
DMDMi | 73920081 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000050791 | 1 – 621 | KIF-binding proteinAdd BLAST | 621 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 178 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q96EK5 |
jPOSTi | Q96EK5 |
MassIVEi | Q96EK5 |
MaxQBi | Q96EK5 |
PaxDbi | Q96EK5 |
PeptideAtlasi | Q96EK5 |
PRIDEi | Q96EK5 |
ProteomicsDBi | 76417 |
PTM databases
iPTMneti | Q96EK5 |
MetOSitei | Q96EK5 |
PhosphoSitePlusi | Q96EK5 |
SwissPalmi | Q96EK5 |
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
Bgeei | ENSG00000198954, Expressed in frontal cortex and 243 other tissues |
ExpressionAtlasi | Q96EK5, baseline and differential |
Genevisiblei | Q96EK5, HS |
Organism-specific databases
HPAi | ENSG00000198954, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsGO - Molecular functioni
- kinesin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 117567, 75 interactors |
IntActi | Q96EK5, 48 interactors |
MINTi | Q96EK5 |
STRINGi | 9606.ENSP00000354848 |
Miscellaneous databases
RNActi | Q96EK5, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the KIF-binding protein family.Curated
Phylogenomic databases
eggNOGi | ENOG502QPZT, Eukaryota |
GeneTreei | ENSGT00390000013819 |
HOGENOMi | CLU_019859_1_0_1 |
InParanoidi | Q96EK5 |
OrthoDBi | 1516717at2759 |
PhylomeDBi | Q96EK5 |
TreeFami | TF324211 |
Family and domain databases
Gene3Di | 1.25.40.10, 1 hit |
InterProi | View protein in InterPro IPR022083, KBP IPR011990, TPR-like_helical_dom_sf |
PANTHERi | PTHR46321, PTHR46321, 1 hit |
Pfami | View protein in Pfam PF12309, KBP_C, 1 hit |
SUPFAMi | SSF48452, SSF48452, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 14 potential isoforms that are computationally mapped.Show allAlign All
Q96EK5-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0D9SFK7 | A0A0D9SFK7_HUMAN | KIF-binding protein | KIFBP | 297 | Annotation score: | ||
A0A1B0GUA3 | A0A1B0GUA3_HUMAN | KIF-binding protein | KIFBP | 646 | Annotation score: | ||
A0A1B0GTE6 | A0A1B0GTE6_HUMAN | KIF-binding protein | KIFBP | 267 | Annotation score: | ||
A0A1B0GUH6 | A0A1B0GUH6_HUMAN | KIF-binding protein | KIFBP | 379 | Annotation score: | ||
A0A1B0GW21 | A0A1B0GW21_HUMAN | KIF-binding protein | KIFBP | 270 | Annotation score: | ||
A0A1B0GVY9 | A0A1B0GVY9_HUMAN | KIF-binding protein | KIFBP | 189 | Annotation score: | ||
A0A1B0GTX3 | A0A1B0GTX3_HUMAN | KIF-binding protein | KIFBP | 312 | Annotation score: | ||
A0A1B0GTE2 | A0A1B0GTE2_HUMAN | KIF-binding protein | KIFBP | 152 | Annotation score: | ||
A0A1B0GU96 | A0A1B0GU96_HUMAN | KIF-binding protein | KIFBP | 136 | Annotation score: | ||
A0A6Q8PGG2 | A0A6Q8PGG2_HUMAN | KIF-binding protein | KIFBP | 449 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
The sequence BAA86593 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 139 | I → T in BAF84032 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 334 | G → A in BAF84032 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 419 | H → R in BAF84032 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023311 | 66 | G → 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 |
CCDSi | CCDS7284.1 |
PIRi | T08798 |
RefSeqi | NP_056449.1, NM_015634.3 |
Genome annotation databases
Ensembli | ENST00000361983; ENSP00000354848; ENSG00000198954 |
GeneIDi | 26128 |
KEGGi | hsa:26128 |
UCSCi | uc001joy.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS7284.1 |
PIRi | T08798 |
RefSeqi | NP_056449.1, NM_015634.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 117567, 75 interactors |
IntActi | Q96EK5, 48 interactors |
MINTi | Q96EK5 |
STRINGi | 9606.ENSP00000354848 |
PTM databases
iPTMneti | Q96EK5 |
MetOSitei | Q96EK5 |
PhosphoSitePlusi | Q96EK5 |
SwissPalmi | Q96EK5 |
Polymorphism and mutation databases
BioMutai | KIF1BP |
DMDMi | 73920081 |
Proteomic databases
EPDi | Q96EK5 |
jPOSTi | Q96EK5 |
MassIVEi | Q96EK5 |
MaxQBi | Q96EK5 |
PaxDbi | Q96EK5 |
PeptideAtlasi | Q96EK5 |
PRIDEi | Q96EK5 |
ProteomicsDBi | 76417 |
Protocols and materials databases
Antibodypediai | 28675, 89 antibodies |
Genome annotation databases
Ensembli | ENST00000361983; ENSP00000354848; ENSG00000198954 |
GeneIDi | 26128 |
KEGGi | hsa:26128 |
UCSCi | uc001joy.4, human |
Organism-specific databases
CTDi | 26128 |
DisGeNETi | 26128 |
EuPathDBi | HostDB:ENSG00000198954.6 |
GeneCardsi | KIFBP |
HGNCi | HGNC:23419, KIFBP |
HPAi | ENSG00000198954, Low tissue specificity |
MalaCardsi | KIFBP |
MIMi | 609367, gene 609460, phenotype |
neXtProti | NX_Q96EK5 |
OpenTargetsi | ENSG00000198954 |
Orphaneti | 66629, Goldberg-Shprintzen megacolon syndrome |
PharmGKBi | PA134897614 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPZT, Eukaryota |
GeneTreei | ENSGT00390000013819 |
HOGENOMi | CLU_019859_1_0_1 |
InParanoidi | Q96EK5 |
OrthoDBi | 1516717at2759 |
PhylomeDBi | Q96EK5 |
TreeFami | TF324211 |
Enzyme and pathway databases
PathwayCommonsi | Q96EK5 |
Miscellaneous databases
BioGRID-ORCSi | 26128, 65 hits in 843 CRISPR screens |
ChiTaRSi | KIF1BP, human |
GeneWikii | KIAA1279 |
GenomeRNAii | 26128 |
Pharosi | Q96EK5, Tbio |
PROi | PR:Q96EK5 |
RNActi | Q96EK5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198954, Expressed in frontal cortex and 243 other tissues |
ExpressionAtlasi | Q96EK5, baseline and differential |
Genevisiblei | Q96EK5, HS |
Family and domain databases
Gene3Di | 1.25.40.10, 1 hit |
InterProi | View protein in InterPro IPR022083, KBP IPR011990, TPR-like_helical_dom_sf |
PANTHERi | PTHR46321, PTHR46321, 1 hit |
Pfami | View protein in Pfam PF12309, KBP_C, 1 hit |
SUPFAMi | SSF48452, SSF48452, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KBP_HUMAN | |
Accessioni | Q96EK5Primary (citable) accession number: Q96EK5 Secondary accession number(s): A8K5M8 Q9Y428 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 30, 2005 |
Last sequence update: | December 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 157 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations