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  2. MANSC1 - MANSC domain containing 1 Gene

MANSC1 - MANSC domain containing 1 Gene

中文名称:含 MANSC 域 1

种属: Homo sapiens

同用名: LOH12CR3; 9130403P13Rik

基因 ID: 54682 | 基因类型: protein coding

关于 MANSC1

This gene has 4 transcripts (splice variants), 1 gene allele, 115 orthologues and 2 paralogues. Ubiquitous expression in salivary gland (RPKM 15.1), esophagus (RPKM 14.1) and 25 other tissues.

功能概要

预计是膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

MANSC1 基因产物(2)

mRNA Protein Name
NM_001363613.2 NP_001350542.1 MANSC domain-containing protein 1 isoform 2
NM_018050.4 NP_060520.2 MANSC domain-containing protein 1 isoform 1 precursor
基因本体论
  • 分子功能
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
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

MANSC1 蛋白结构

MANEC

MANEC: MANEC domain (25 - 117)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 431 a.a.
蛋白主名 其他名称

MANSC domain-containing protein 1

loss of heterozygosity 12 chromosomal region 3 protein

重组 MANSC1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70165 MANSC1 Protein, Human (HEK293, His) AAH32998.1 (Q27-L385) ≥95%

关联疾病

疾病名称 别名
Temtamy Syndrome

TEMTYS

Craniofacial Dysmorphism With Ocular Coloboma Absent Corpus Callosum And Aortic Dilatation

Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome

Dysmorphism, Corpus Callosum Agenesis And Colobomas

Temtamy-Shalash Syndrome

Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum

Autosomal Dominant Intellectual Developmental Disorder 6

Autosomal Dominant Non-Syndromic Intellectual Disability 6

Autosomal Dominant Mental Retardation 6

Mrd6

Mental Retardation, Autosomal Dominant, Type 6

Mental Retardation, Autosomal Dominant 6

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

Sotos Syndrome 1

Sotos1

Sotos Syndrome, Type 1

Sotos' 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
Bos taurus MANSC1 VGNC VGNC:31172
Rattus norvegicus MANSC1 RGD RGD:1593458
Macaca mulatta MANSC1 VGNC VGNC:74358
Mus musculus MANSC1 MGD MGI:1914979
Canis familiaris MANSC1 VGNC VGNC:42952
Others MANSC1 NCBI