1. Gene
  2. HYPK - huntingtin interacting protein K Gene

HYPK - huntingtin interacting protein K Gene

Homo sapiens

Also known as HSPC136; C15orf63

Gene ID: 25764 | Gene type: protein coding

About HYPK

Cytogenetic location: 15q15.3 Genomic coordinates (GRCh38): 15:43,800,421-43,804,427 (from NCBI)

This gene has 5 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in fat (RPKM 18.1), prostate (RPKM 18.1) and 25 other tissues.

Summary

Enables protein N-terminus binding activity. Involved in negative regulation of apoptotic process and protein stabilization. Located in cytoplasm; microtubule cytoskeleton; and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

HYPK Products(2)

mRNA Protein Name
NM_001199885.1 NP_001186814.1 huntingtin-interacting protein K isoform 2
NM_016400.4 NP_057484.4 huntingtin-interacting protein K isoform 1
Protein Preferred Names Protein Names

huntingtin-interacting protein K

huntingtin yeast partner K

Related Diseases

Diseases Alias
Microphthalmia, Syndromic 1

MCOPS1

Lenz Microphthalmia Syndrome

Lenz Dysplasia

Mcops4

Syndromic Microphthalmia 1

Lenz Microphthalmia

Maa

Microphthalmia Or Anophthalmos With Associated Anomalies

Syndromic Microphthalmia Type 4

Microphthalmia, Syndromic 4

Microphthalmia, Syndromic 4, Formerly

Mcops4, Formerly

Anop1, Formerly

Maa, Formerly

Lenz Type Microphthalmia

Syndromic Microphthalmia 4

Microphthalmia Lenz Type

Microphthalmia Syndromic 1

Syndromic Microphthalmia Type 1

Microphthalmia Syndromic 4

Microphthalmia With Ankyloblepharon And Intellectual Disability

Microphthalmia, Lenz Type

Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Microphthalmia, Syndromic, 1

Anop1

Microphthalmia, Syndromic, Type 1

46,Xx Sex Reversal 3

SRXX3

Chromosome Xq26 Duplication Syndrome

46,Xx Sex Reversal, Sox3-Related

46xx Sex Reversal 3

46,Xx Male Sex Reversal Sox3-Related

Ogden Syndrome

OGDNS

N-Terminal Acetyltransferase Deficiency

NATD

N-Alpha-Acetyltransferase

X-Linked Malformation And Infantile Lethality Syndrome

Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome

Syndromic Microphthalmia

Microphthalmia, Syndromic

Dysgraphia

Agraphia

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 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
Macaca mulatta HYPK VGNC VGNC:84350
Felis catus HYPK VGNC VGNC:62862
Bos taurus HYPK VGNC VGNC:30015
Rattus norvegicus HYPK RGD RGD:1311457
Mus musculus HYPK MGD MGI:1914943