1. Gene
  2. PAK1IP1 - PAK1 interacting protein 1 Gene

PAK1IP1 - PAK1 interacting protein 1 Gene

中文名称:PAK1 相互作用蛋白 1

种属: Homo sapiens

同用名: PIP1; MAK11; WDR84; hPIP1; bA421M1.5

基因 ID: 55003 | 基因类型: protein coding

关于 PAK1IP1

Cytogenetic location: 6p24.2 Genomic coordinates (GRCh38): 6:10,690,865-10,709,782 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 198 orthologues and 26 paralogues. Ubiquitous expression in prostate (RPKM 23.6), appendix (RPKM 6.7) and 24 other tissues.

功能概要

参与通过 p53 类介质调节信号转导和核糖体大亚基生物发生。位于核仁。 [由基因组资源联盟提供,2022 年 4 月]

Involved in regulation of signal transduction by p53 class mediator and ribosomal large subunit biogenesis. Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022]

PAK1IP1 基因产物(1)

mRNA Protein Name
NM_017906.3 NP_060376.2 p21-activated protein kinase-interacting protein 1

PAK1IP1 蛋白结构

WD40

WD40: WD domain, G-beta repeat (37 - 68)

WD40

WD40: WD domain, G-beta repeat (78 - 109)

WD40

WD40: WD domain, G-beta repeat (113 - 151)

WD40

WD40: WD domain, G-beta repeat (237 - 275)

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  • 300
  • 392 a.a.
蛋白主名 其他名称

p21-activated protein kinase-interacting protein 1

PAK/PLC-interacting protein 1

关联疾病

疾病名称 别名
Kidney Rhabdoid Cancer

Rhabdoid Tumor Of The Kidney

Kidney Rhabdoid Tumor

Renal Rhabdoid Tumor

Non-Syndromic X-Linked Intellectual Disability 30

Mrx30

Mrx47

X-Linked Mental Retardation 30/47

X-Linked Mental Retardation 47

Mental Retardation, X-Linked, Type 30/47

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

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

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
Macaca mulatta PAK1IP1 VGNC VGNC:75661
Felis catus PAK1IP1 VGNC VGNC:64026
Rattus norvegicus PAK1IP1 RGD RGD:1565353
Mus musculus PAK1IP1 MGD MGI:1915333
Canis familiaris PAK1IP1 VGNC VGNC:44244
Bos taurus PAK1IP1 VGNC VGNC:32555