Seroatlas · Human Serome Atlas

KIFBP

KIF-binding protein

Also known as: DKFZP586B0923, KBP, KBP_HUMAN, KIAA1279, KIF1BP, TTC20

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96EK5
Gene: KIFBP
Ensembl: ENSG00000198954
Chromosome: 10
Canonical length: 621 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

621 residues, UniProt reviewed canonical sequence.

>Q96EK5|KIFBP
     1  MANVPWAEVC EKFQAALALS RVELHKNPEK EPYKSKYSAR ALLEEVKALL GPAPEDEDER
    61  PEAEDGPGAG DHALGLPAEV VEPEGPVAQR AVRLAVIEFH LGVNHIDTEE LSAGEEHLVK
   121  CLRLLRRYRL SHDCISLCIQ AQNNLGILWS EREEIETAQA YLESSEALYN QYMKEVGSPP
   181  LDPTERFLPE EEKLTEQERS KRFEKVYTHN LYYLAQVYQH LEMFEKAAHY CHSTLKRQLE
   241  HNAYHPIEWA INAATLSQFY INKLCFMEAR HCLSAANVIF GQTGKISATE DTPEAEGEVP
   301  ELYHQRKGEI ARCWIKYCLT LMQNAQLSMQ DNIGELDLDK QSELRALRKK ELDEEESIRK
   361  KAVQFGTGEL CDAISAVEEK VSYLRPLDFE EARELFLLGQ HYVFEAKEFF QIDGYVTDHI
   421  EVVQDHSALF KVLAFFETDM ERRCKMHKRR IAMLEPLTVD LNPQYYLLVN RQIQFEIAHA
   481  YYDMMDLKVA IADRLRDPDS HIVKKINNLN KSALKYYQLF LDSLRDPNKV FPEHIGEDVL
   541  RPAMLAKFRV ARLYGKIITA DPKKELENLA TSLEHYKFIV DYCEKHPEAA QEIEVELELS
   601  KEMVSLLPTK MERFRTKMAL T

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KIFBP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 40 nTPM

Expression across tissuesHPA

Tissue

tongue: 40 nTPM
heart muscle: 35 nTPM
parathyroid gland: 32 nTPM
spinal cord: 30 nTPM
skeletal muscle: 30 nTPM
cerebral cortex: 30 nTPM

Single-cell type

oocytes: 124 nCPM
sertoli cells: 74 nCPM
decidual stromal cells: 66 nCPM
corticotrophs: 60 nCPM
pancreatic islet cells: 55 nCPM
thymic myoid cells: 53 nCPM

Immune cell

non-classical monocyte: 13 nTPM
naive CD4 T-cell: 9.6 nTPM
MAIT T-cell: 8.8 nTPM
memory CD4 T-cell: 8.4 nTPM
T-reg: 8 nTPM
naive CD8 T-cell: 7.8 nTPM

Brain region

white matter: 42 nTPM
cerebral cortex: 38 nTPM
spinal cord: 37 nTPM
pons: 34 nTPM
cerebellum: 34 nTPM
medulla oblongata: 34 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KIFBP.

Disease | AllUniProt

Conditions KIFBP is implicated in, by any mechanism.

Goldberg-Shprintzen syndrome (GOSHS) MIM:609460

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 254 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Goldberg-Shprintzen syndrome
KIFBP-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.51
gnomAD pLI: 0.08
DepMap mean gene effect: -0.35
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Tetratricopeptide-like helical domain superfamily
KIF-1 binding protein
KIF-1 binding protein C terminal

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KIFBP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KIFBP as an antibody target. Whether an autoantibody or antibody against KIFBP could matter depends on whether native KIFBP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KIFBP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label KIFBP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...