CCDC91 - coiled-coil domain containing 91 Gene

Also Known as p56; HSD8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55297

About CCDC91

Cytogenetic location: 12p11.22 Genomic coordinates (GRCh38): 12:28,190,456-28,550,166 (from NCBI)

This gene has 22 transcripts (splice variants) and 124 orthologues. Broad expression in testis (RPKM 18.7), thyroid (RPKM 8.5) and 25 other tissues.

Summary

Predicted to enable identical protein binding activity. Involved in Golgi to lysosome transport. Located in nucleoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]

CCDC91 Products (12)

mRNA Protein Name
NM_001330367.2 NP_001317296.1 coiled-coil domain-containing protein 91 isoform 2
NM_001352078.2 NP_001339007.1 coiled-coil domain-containing protein 91 isoform 1
NM_001352079.2 NP_001339008.1 coiled-coil domain-containing protein 91 isoform 1
NM_001352080.2 NP_001339009.1 coiled-coil domain-containing protein 91 isoform 1
NM_001352081.2 NP_001339010.1 coiled-coil domain-containing protein 91 isoform 1
NM_001352082.2 NP_001339011.1 coiled-coil domain-containing protein 91 isoform 3
NM_001352083.2 NP_001339012.1 coiled-coil domain-containing protein 91 isoform 3
NM_001352084.2 NP_001339013.1 coiled-coil domain-containing protein 91 isoform 4
NM_001352086.2 NP_001339015.1 coiled-coil domain-containing protein 91 isoform 5
NM_001352087.2 NP_001339016.1 coiled-coil domain-containing protein 91 isoform 6
NM_001387000.1 NP_001373929.1 coiled-coil domain-containing protein 91 isoform 1
NM_018318.5 NP_060788.3 coiled-coil domain-containing protein 91 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in Golgi to lysosome transport IMP
IMP: Inferred from mutant phenotype
17596511 GOA
Cellular Component GO Annotation Evidence References Source
located in trans-Golgi network IDA
IDA: Inferred from direct assay
17596511 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
Protein Preferred Names Protein Names

coiled-coil domain-containing protein 91

  • GGA-binding partner

Related Diseases

Diseases Alias
Ossification Of The Posterior Longitudinal Ligament Of Spine
  • OPLL

  • Ossification Of The Posterior Longitudinal Ligament Of The Spine

  • Ossification Of Posterior Longitudinal Ligament Of Spine

  • Ossification, Posterior Longitudinal Ligament Spine

Diffuse Idiopathic Skeletal Hyperostosis
  • Hyperostosis, Diffuse Idiopathic Skeletal

  • Ankylosing Vertebral Hyperostosis

  • Dish

  • Disseminated Idiopathic Skeletal Hyperostosis

  • Forestier Disease

  • Forestier'S Disease

  • Hyperostosis Diffuse Idiopathic Skeletal

Cantu Syndrome
  • Hypertrichotic Osteochondrodysplasia

  • Hypertrichotic Osteochondrodysplasia Cantu Type

  • Cantú Syndrome

  • Craniofaciocardioskeletal Syndrome

  • Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome

  • Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum

  • Congenital Hypertrichosis-Coarse Facial Features Spectrum

  • HTOCD

  • Osteochondrodysplasia, Hypertrichotic

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
Rattus norvegicus CCDC91 RGD RGD:1359502
Mus musculus CCDC91 MGD MGI:1914265
Felis catus CCDC91 VGNC VGNC:60528
Bos taurus CCDC91 VGNC VGNC:26932
Macaca mulatta CCDC91 VGNC VGNC:70852
Canis familiaris CCDC91 VGNC VGNC:38872
Others CCDC91 NCBI