UniProtKB - Q96EK5 (KBP_HUMAN)

BLAST

>sp|Q96EK5|KBP_HUMAN KIF1-binding protein OS=Homo sapiens OX=9606 GN=KIF1BP PE=1 SV=1
MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDER
PEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVK
CLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPP
LDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLE
HNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVP
ELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRK
KAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHI
EVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHA
YYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVL
RPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELS
KEMVSLLPTKMERFRTKMALT

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History
Entry version 143 (07 Nov 2018)
Sequence version 1 (01 Dec 2001)
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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
Inferred from physical interactionⁱ
- 16225668

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

cell differentiation Source: UniProtKB-KW
mitochondrial transport
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 16225668
nervous system development Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein
Biological process	Differentiation, Neurogenesis

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: KIF1-binding protein1 Publication
Gene namesⁱ	Name:KIF1BPImported Synonyms:KBP1 Publication, KIAA12791 Publication
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 10

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000198954.6
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:23419 KIF1BP
MIMⁱ	609367 gene
neXtProtⁱ	NX_Q96EK5

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.

Keywords - Diseaseⁱ

Hirschsprung disease

Organism-specific databases

DisGeNET More...DisGeNETⁱ	26128
MalaCards human disease database More...MalaCardsⁱ	KIF1BP
MIMⁱ	609460 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000198954
Orphanetⁱ	66629 Goldberg-Shprintzen megacolon syndrome
PharmGKBⁱ	PA134897614

Polymorphism and mutation databases

BioMutaⁱ	KIAA1279
DMDMⁱ	73920081

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000050791	1 – 621	KIF1-binding proteinAdd BLAST		621

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	178	PhosphoserineCombined sources		1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

EPDⁱ	Q96EK5
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96EK5
PaxDbⁱ	Q96EK5
PeptideAtlas More...PeptideAtlasⁱ	Q96EK5
PRIDEⁱ	Q96EK5
ProteomicsDBⁱ	76417

PTM databases

iPTMnetⁱ	Q96EK5
PhosphoSitePlusⁱ	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 232 organ(s), highest expression level in frontal cortex
CleanExⁱ	HS_KIAA1279
ExpressionAtlasⁱ	Q96EK5 baseline and differential
Genevisibleⁱ	Q96EK5 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA035538 HPA035539

HPAⁱ

HPA035538
HPA035539

Interactionⁱ

Subunit structureⁱ

Interacts with KIF1B. Interacts with STMN2.2 Publications

Binary interactionsⁱ

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

GO - Molecular functionⁱ

kinesin binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 16225668

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	117567, 69 interactors
IntActⁱ	Q96EK5, 24 interactors
Molecular INTeraction database More...MINTⁱ	Q96EK5
STRINGⁱ	9606.ENSP00000354848

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q96EK5
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the KIF1-binding protein family.Curated

Phylogenomic databases

eggNOGⁱ	ENOG410IE53 Eukaryota ENOG410XSW1 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000013819
HOGENOMⁱ	HOG000047429
HOVERGENⁱ	HBG108054
InParanoidⁱ	Q96EK5
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G063S
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	PTHR20956:SF15 PTHR20956:SF15, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF12309 KBP_C, 1 hit
SUPFAMⁱ	SSF48452 SSF48452, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 10 potential isoforms that are computationally mapped.Show all Align All

Q96EK5-1 [UniParc]FASTA Add to basket

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        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

Computationally mapped potential isoform sequencesⁱ

There are 10 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A0D9SFK7	A0A0D9SFK7_HUMAN	KIF1-binding protein KIF1-binding protein	KIF1BP	297	Annotation score:
A0A1B0GUA3	A0A1B0GUA3_HUMAN	KIF1-binding protein KIF1-binding protein	KIF1BP	646	Annotation score:
A0A1B0GUH6	A0A1B0GUH6_HUMAN	KIF1-binding protein KIF1-binding protein	KIF1BP	342	Annotation score:
A0A1B0GW21	A0A1B0GW21_HUMAN	KIF1-binding protein KIF1-binding protein	KIF1BP	209	Annotation score:
A0A1B0GV79	A0A1B0GV79_HUMAN	KIF1-binding protein KIF1-binding protein	KIF1BP	169	Annotation score:
A0A1B0GTE6	A0A1B0GTE6_HUMAN	KIF1-binding protein KIF1-binding protein	KIF1BP	267	Annotation score:
A0A1B0GVY9	A0A1B0GVY9_HUMAN	KIF1-binding protein KIF1-binding protein	KIF1BP	189	Annotation score:
A0A1B0GTE2	A0A1B0GTE2_HUMAN	KIF1-binding protein KIF1-binding protein	KIF1BP	57	Annotation score:
A0A1B0GU96	A0A1B0GU96_HUMAN	KIF1-binding protein KIF1-binding protein	KIF1BP	101	Annotation score:
A0A1B0GTX3	A0A1B0GTX3_HUMAN	KIF1-binding protein KIF1-binding protein	KIF1BP	82	Annotation score:

Sequence cautionⁱ

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

Experimental Info

Feature key	Position(s)	DescriptionActions	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS7284.1
PIRⁱ	T08798
NCBI Reference Sequences More...RefSeqⁱ	NP_056449.1, NM_015634.3
UniGeneⁱ	Hs.279580

Genome annotation databases

Ensemblⁱ	ENST00000361983; ENSP00000354848; ENSG00000198954
GeneIDⁱ	26128
KEGGⁱ	hsa:26128
UCSC genome browser More...UCSCⁱ	uc001joy.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q96EK5	Uncharacterized protein		PANPA		621	UniRef100_Q96EK5

Protein	Similar proteins		Species	Score	Length	Source
Q96EK5	KIF1-binding protein		BOVIN		621	UniRef90_Q96EK5
KIF1-binding protein		RAT		617
KIF1-binding protein		MOUSE		617
Uncharacterized protein		PANPA		621
Uncharacterized protein		SHEEP		653
+117

Protein	Similar proteins		Species	Score	Length	Source
Q96EK5	KIF1-binding protein		BOVIN		621	UniRef50_Q96EK5
KIF1-binding protein		MOUSE		617
KIF1-binding protein		RAT		617
KIF1-binding protein homolog		DANRE		631
Uncharacterized protein		PANPA		621
+207

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
UniGeneⁱ	Hs.279580

3D structure databases

ProteinModelPortalⁱ	Q96EK5
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	117567, 69 interactors
IntActⁱ	Q96EK5, 24 interactors
MINTⁱ	Q96EK5
STRINGⁱ	9606.ENSP00000354848

PTM databases

iPTMnetⁱ	Q96EK5
PhosphoSitePlusⁱ	Q96EK5

Polymorphism and mutation databases

BioMutaⁱ	KIAA1279
DMDMⁱ	73920081

Proteomic databases

EPDⁱ	Q96EK5
MaxQBⁱ	Q96EK5
PaxDbⁱ	Q96EK5
PeptideAtlasⁱ	Q96EK5
PRIDEⁱ	Q96EK5
ProteomicsDBⁱ	76417

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

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	KIF1BP
H-InvDBⁱ	HIX0008881
HGNCⁱ	HGNC:23419 KIF1BP
HPAⁱ	HPA035538 HPA035539
MalaCardsⁱ	KIF1BP
MIMⁱ	609367 gene 609460 phenotype
neXtProtⁱ	NX_Q96EK5
OpenTargetsⁱ	ENSG00000198954
Orphanetⁱ	66629 Goldberg-Shprintzen megacolon syndrome
PharmGKBⁱ	PA134897614
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IE53 Eukaryota ENOG410XSW1 LUCA
GeneTreeⁱ	ENSGT00390000013819
HOGENOMⁱ	HOG000047429
HOVERGENⁱ	HBG108054
InParanoidⁱ	Q96EK5
OrthoDBⁱ	EOG091G063S
PhylomeDBⁱ	Q96EK5
TreeFamⁱ	TF324211

Miscellaneous databases

ChiTaRSⁱ	KIF1BP human
GeneWikiⁱ	KIAA1279
GenomeRNAiⁱ	26128
Protein Ontology More...PROⁱ	PR:Q96EK5
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000198954 Expressed in 232 organ(s), highest expression level in frontal cortex
CleanExⁱ	HS_KIAA1279
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	PTHR20956:SF15 PTHR20956:SF15, 1 hit
Pfamⁱ	View protein in Pfam PF12309 KBP_C, 1 hit
SUPFAMⁱ	SSF48452 SSF48452, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	KBP_HUMAN
Accessionⁱ	Q96EK5Primary (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 7, 2018
	This is version 143 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
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
Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM

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UniProtKB - Q96EK5 (KBP_HUMAN)

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KIF1-binding protein

KIF1BP

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Cytoskeleton

Cytoskeleton

Mitochondrion

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

UniProt is an ELIXIR core data resource

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ