Seroatlas · Human Serome Atlas

HKDC1

Hexokinase HKDC1

Also known as: FLJ22761, FLJ37767, HKDC1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q2TB90
Gene: HKDC1
Ensembl: ENSG00000156510
Chromosome: 10
Canonical length: 917 aa
Protein class: Disease related genes, Enzymes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

917 residues, UniProt reviewed canonical sequence.

>Q2TB90|HKDC1
     1  MFAVHLMAFY FSKLKEDQIK KVDRFLYHMR LSDDTLLDIM RRFRAEMEKG LAKDTNPTAA
    61  VKMLPTFVRA IPDGSENGEF LSLDLGGSKF RVLKVQVAEE GKRHVQMESQ FYPTPNEIIR
   121  GNGTELFEYV ADCLADFMKT KDLKHKKLPL GLTFSFPCRQ TKLEEGVLLS WTKKFKARGV
   181  QDTDVVSRLT KAMRRHKDMD VDILALVNDT VGTMMTCAYD DPYCEVGVII GTGTNACYME
   241  DMSNIDLVEG DEGRMCINTE WGAFGDDGAL EDIRTEFDRE LDLGSLNPGK QLFEKMISGL
   301  YLGELVRLIL LKMAKAGLLF GGEKSSALHT KGKIETRHVA AMEKYKEGLA NTREILVDLG
   361  LEPSEADCIA VQHVCTIVSF RSANLCAAAL AAILTRLREN KKVERLRTTV GMDGTLYKIH
   421  PQYPKRLHKV VRKLVPSCDV RFLLSESGST KGAAMVTAVA SRVQAQRKQI DRVLALFQLT
   481  REQLVDVQAK MRAELEYGLK KKSHGLATVR MLPTYVCGLP DGTEKGKFLA LDLGGTNFRV
   541  LLVKIRSGRR SVRMYNKIFA IPLEIMQGTG EELFDHIVQC IADFLDYMGL KGASLPLGFT
   601  FSFPCRQMSI DKGTLIGWTK GFKATDCEGE DVVDMLREAI KRRNEFDLDI VAVVNDTVGT
   661  MMTCGYEDPN CEIGLIAGTG SNMCYMEDMR NIEMVEGGEG KMCINTEWGG FGDNGCIDDI
   721  WTRYDTEVDE GSLNPGKQRY EKMTSGMYLG EIVRQILIDL TKQGLLFRGQ ISERLRTRGI
   781  FETKFLSQIE SDRLALLQVR RILQQLGLDS TCEDSIVVKE VCGAVSRRAA QLCGAGLAAI
   841  VEKRREDQGL EHLRITVGVD GTLYKLHPHF SRILQETVKE LAPRCDVTFM LSEDGSGKGA
   901  ALITAVAKRL QQAQKEN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HKDC1 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: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.21
Highest tissue expression: 50 nTPM

Expression across tissuesHPA

Tissue

duodenum: 50 nTPM
small intestine: 45 nTPM
retina: 43 nTPM
kidney: 12 nTPM
thyroid gland: 8.6 nTPM
colon: 6.4 nTPM

Single-cell type

müller glia: 1,676 nCPM
enterocytes: 411 nCPM
endometrial glandular cells: 386 nCPM
endometrial luminal cells: 355 nCPM
endometrial ciliated cells: 301 nCPM
pancreatic duct cells: 291 nCPM

Immune cell

naive CD4 T-cell: 5.8 nTPM
T-reg: 5.4 nTPM
memory CD4 T-cell: 3.1 nTPM
naive CD8 T-cell: 2.3 nTPM
memory CD8 T-cell: 1 nTPM
total PBMC: 1 nTPM

Brain region

midbrain: 3.3 nTPM
medulla oblongata: 2.6 nTPM
choroid plexus: 2 nTPM
pons: 2 nTPM
cerebellum: 1.9 nTPM
spinal cord: 1.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HKDC1.

Disease | AllUniProt

Conditions HKDC1 is implicated in, by any mechanism.

Retinitis pigmentosa 92 (RP92) MIM:619614

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 212 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 0.88
gnomAD pLI: 0
gnomAD missense Z: -0.14
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HKDC1 as an antibody target. Whether an autoantibody or antibody against HKDC1 could matter depends on whether native HKDC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HKDC1 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 HKDC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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