HKDC1 - hexokinase domain containing 1 Gene

Also Known as RP92

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80201

About HKDC1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:69,220,332-69,267,552 (from NCBI)

This gene has 3 transcripts (splice variants), 178 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in duodenum (RPKM 22.5), small intestine (RPKM 21.3) and 6 other tissues.

Summary

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]

HKDC1 Products (1)

mRNA Protein Name
NM_025130.4 NP_079406.4 hexokinase HKDC1
Molecular Function GO Annotation Evidence References Source
enables glucokinase activity IDA
IDA: Inferred from direct assay
30517626 GOA
Biological Process GO Annotation Evidence References Source
involved in glucose 6-phosphate metabolic process IDA
IDA: Inferred from direct assay
30517626 GOA
involved in intracellular glucose homeostasis IDA
IDA: Inferred from direct assay
30517626 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
30085091 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
30517626 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HKDC1 Protein Structure

Hexokinase_1

Hexokinase_1: Hexokinase (17 - 221)

Hexokinase_2

Hexokinase_2: Hexokinase (224 - 462)

Hexokinase_1

Hexokinase_1: Hexokinase (465 - 668)

Hexokinase_2

Hexokinase_2: Hexokinase (670 - 909)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 917 a.a.
Protein Preferred Names Protein Names

hexokinase HKDC1

  • hexokinase domain-containing protein 1

HKDC1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83243 HKDC1 Antibody (YA2988) WB, IP Human
HY-P83243A HKDC1 Antibody (YA2988)(PBS only) WB, IP Human

Related Diseases

Diseases Alias
Retinitis Pigmentosa 92
  • RP92

  • Retinitis Pigmentosa, Type 92

Orofacial Cleft 1
  • OFC1

  • Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 1

  • Orofacial Cleft, Nonsyndromic

  • Ofc

  • Cleft Lip/Palate, Nonsyndromic

  • Orofacial Cleft-1

  • Nonsyndromic Cleft Lip With Or Without Cleft Palate 1

  • Nonsyndromic Cleft Lip Palate

  • Otofaciocervical Syndrome 1

Gestational Diabetes
  • Gestational Diabetes Mellitus

  • GDM

  • Diabetes Mellitus Arising In Pregnancy

  • Maternal Gestational Diabetes Mellitus

  • Diabetes Mellitus, Gestational

  • Diabetes Mellitus, Pregnancy Related

  • Diabetes, Pregnancy-Induced

  • Diabetes Gestational

  • Diabetes, Gestational

  • Diabetes Of Pregnancy

  • Gdm - [Gestational Diabetes Mellitus]

  • Gestational Diabetes Mellitus Nos

  • Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Retinitis Pigmentosa 73
  • RP73

  • Retinitis Pigmentosa, Type 73

Diabetes Mellitus
  • Diabetes

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris HKDC1 VGNC VGNC:41701
Macaca mulatta HKDC1 VGNC VGNC:73432
Mus musculus HKDC1 MGD MGI:2384910
Rattus norvegicus HKDC1 RGD RGD:2321830
Bos taurus HKDC1 VGNC VGNC:29867