1. Gene
  2. CCDC91 - coiled-coil domain containing 91 Gene

CCDC91 - coiled-coil domain containing 91 Gene

中文名称:含卷曲螺旋结构域 91

种属: Homo sapiens

同用名: p56; HSD8

基因 ID: 55297 | 基因类型: protein coding

关于 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.

功能概要

预测具有相同的蛋白质结合活性。参与高尔基体向溶酶体的运输。位于核质和跨高尔基体网络中。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi to lysosome transport IMP
IMP: 通过突变表型推断
17596511 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in trans-Golgi network IDA
IDA: 通过直接分析推断
17596511 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

coiled-coil domain-containing protein 91

GGA-binding partner

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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