1. Gene
  2. CYTH1 - cytohesin 1 Gene

CYTH1 - cytohesin 1 Gene

中文名称:细胞粘附素 1

种属: Homo sapiens

同用名: B2-1; SEC7; PSCD1; D17S811E; CYTOHESIN-1

基因 ID: 9267 | 基因类型: protein coding

关于 CYTH1

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:78,674,048-78,782,273 (from NCBI)

This gene has 17 transcripts (splice variants), 280 orthologues and 15 paralogues. Ubiquitous expression in lymph node (RPKM 26.6), bone marrow (RPKM 23.4) and 25 other tissues.

功能概要

该基因编码的蛋白质是 PSCD 家族的成员。该家族的成员具有相同的结构组织,包括一个 N 端卷曲螺旋基序、一个中央 Sec7 结构域和一个 C 端 pleckstrin 同源 (PH) 结构域。卷曲螺旋基序参与同二聚化,Sec7 结构域包含鸟嘌呤-核苷酸交换蛋白活性,PH 结构域与磷脂相互作用并负责 PSCD 与膜的结合。该家族的成员似乎调节蛋白质分选和膜运输的调节。该基因在自然杀伤细胞和外周 T 细胞中高表达,并调节整合素在淋巴细胞质膜上的粘附性。该基因的假基因已在 X 染色体上定义。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 5 月]

The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein activity, and the PH domain interacts with Phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

CYTH1 基因产物(12)

mRNA Protein Name
NM_001292018.4 NP_001278947.1 cytohesin-1 isoform 3
NM_001292019.4 NP_001278948.1 cytohesin-1 isoform 3
NM_001365037.2 NP_001351966.1 cytohesin-1 isoform 4
NM_001365038.2 NP_001351967.1 cytohesin-1 isoform 5
NM_001365039.2 NP_001351968.1 cytohesin-1 isoform 5
NM_001365040.2 NP_001351969.1 cytohesin-1 isoform 6
NM_001365041.3 NP_001351970.1 cytohesin-1 isoform 5
NM_001394676.1 NP_001381605.1 cytohesin-1 isoform 5
NM_001394677.1 NP_001381606.1 cytohesin-1 isoform 7
NM_001394678.1 NP_001381607.1 cytohesin-1 isoform 8
NM_004762.6 NP_004753.1 cytohesin-1 isoform 1
NM_017456.4 NP_059430.2 cytohesin-1 isoform 2
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 guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
10652308 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11867758 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within regulation of cell adhesion IDA
IDA: 通过直接分析推断
12606567 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
12606567 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
12606567 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

CYTH1 蛋白结构

Sec7

Sec7: Sec7 domain (62 - 244)

PH

PH: PH domain (263 - 377)

  • 0
  • 100
  • 200
  • 300
  • 398 a.a.
蛋白主名 其他名称

cytohesin-1

PH, SEC7 and coiled-coil domain-containing protein 1

CYTH1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra CYTH1 Q15438 IPCEF1 Homo sapiens Q8WWN9
Y2H Prey Pooling
32296183
Intra CYTH1 Q15438 IPCEF1 Homo sapiens Q8WWN9
Validated Y2H
32296183
Intra CYTH1 Q15438 IPCEF1 Homo sapiens Q8WWN9
Y2H Array
32296183
Intra CYTH1 Q15438 INAVA Homo sapiens Q3KP66-1
BRET
31022698
Intra CYTH1 Q15438 INAVA Homo sapiens Q3KP66-1
Y2H
31022698
Intra CYTH1 Q15438 CNKSR1 Homo sapiens Q969H4
Validated Y2H
32296183
Intra CYTH1 Q15438 CNKSR1 Homo sapiens Q969H4
Anti Tag CoIP
33961781
Intra CYTH1 Q15438 CNKSR1 Homo sapiens Q969H4
Y2H Prey Pooling
32296183
Intra CYTH1 Q15438 CNKSR1 Homo sapiens Q969H4
Y2H Array
32296183
Intra CYTH1 Q15438 CCDC120 Homo sapiens Q96HB5
Validated Y2H
32296183
Intra CYTH1 Q15438 CCDC120 Homo sapiens Q96HB5
Y2H Array
32296183
Intra CYTH1 Q15438 CCDC120 Homo sapiens Q96HB5
Y2H Prey Pooling
32296183
Intra CYTH1 Q15438 INAVA Homo sapiens Q3KP66
Anti Tag CoIP
29420262
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities

IDDSSBA

Ankylosing Spondylitis 1

Ankylosing Spondylitis, Susceptibility To, 1

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1

Mrx18

Mrx78

X-Linked Mental Retardation 1/78

X-Linked Mental Retardation 18

Psoriasis 3

PSORS3

Psoriasis Susceptibility 3

Psoriasis 3, Susceptibility To

Psoriasis 2

PSORS2

Psoriasis

Psoriasis Vulgaris

Pv

Psoriasis, Susceptibility To, Type 2

Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

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 CYTH1 RGD RGD:620397
Felis catus CYTH1 VGNC VGNC:69095
Canis familiaris CYTH1 VGNC VGNC:49091
Macaca mulatta CYTH1 VGNC VGNC:71828
Bos taurus CYTH1 VGNC VGNC:55809
Mus musculus CYTH1 MGD MGI:1334257