1. Gene
  2. TMCO1 - transmembrane and coiled-coil domains 1 Gene

TMCO1 - transmembrane and coiled-coil domains 1 Gene

中文名称:跨膜和卷曲螺旋结构域 1

种属: Homo sapiens

同用名: PCIA3; TMCC4; CFSMR1; HP10122; PNAS-136

基因 ID: 54499 | 基因类型: protein coding

关于 TMCO1

Cytogenetic location: 1q24.1 Genomic coordinates (GRCh38): 1:165,724,291-165,768,922 (from NCBI)

This gene has 8 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 19.0), thyroid (RPKM 18.0) and 25 other tissues.

功能概要

该基因座编码跨膜蛋白。该位点的突变与颅面畸形、骨骼异常和认知障碍有关。该位点的突变也与开角型青光眼失明有关。已经描述了选择性剪接的转录物变体。[RefSeq 提供,2012 年 1 月]

This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

TMCO1 基因产物(3)

mRNA Protein Name
NM_001256164.1 NP_001243093.1 calcium load-activated calcium channel isoform b
NM_001256165.1 NP_001243094.1 calcium load-activated calcium channel isoform c
NM_019026.6 NP_061899.3 calcium load-activated calcium channel isoform a precursor
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 calcium channel activity IDA
IDA: 通过直接分析推断
27212239 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables ribosome binding IDA
IDA: 通过直接分析推断
32820719 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ER overload response IDA
IDA: 通过直接分析推断
27212239 GOA
involved in calcium ion transmembrane transport IDA
IDA: 通过直接分析推断
27212239 GOA
involved in endoplasmic reticulum calcium ion homeostasis IDA
IDA: 通过直接分析推断
27212239 GOA
involved in multi-pass transmembrane protein insertion into ER membrane IDA
IDA: 通过直接分析推断
36261522 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
27212239 GOA
part of multi-pass translocon complex IDA
IDA: 通过直接分析推断
36261522 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

TMCO1 蛋白结构

DUF106

DUF106: Integral membrane protein DUF106 (8 - 165)

  • 0
  • 100
  • 188 a.a.
蛋白主名 其他名称

calcium load-activated calcium channel

CLAC channel

关联疾病

疾病名称 别名
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1

Cerebrofaciothoracic Dysplasia

Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome

CFSMR

Cerebro-Facio-Thoracic Dysplasia

Pascual-Castroviejo Syndrome

Tmco1 Defect Syndrome

Cerebro Facio Thoracic Dysplasia

CFSMR1

Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development 1

Cftd

Pascual-Castroviejo Syndrome Type 1

Craniofacial Dysmorphism, Skeletal Anomalies And Intellectual Disability Syndrome

Dysmorphism, Craniofacial, Skeletal Anomalies, And Mental Retardation Syndrome

Pascual Castroviejo Syndrome

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Pulmonic Stenosis

Valvular Pulmonic Stenosis

Congenital Pulmonary Valvar Stenosis

Congenital Stenosis Of Pulmonary Valve

Pulmonary Valve Stenosis

Pulmonary Stenosis

Congenital Pulmonary Valve Stricture

Congenital Pulmonary Valve Stenosis

Renal Hypodysplasia/Aplasia 1

Renal Agenesis

Renal Adysplasia

Renal Aplasia

RHDA1

Hereditary Renal Aplasia

Hra

Hereditary Urogenital Adysplasia

Hypodysplasia/Aplasia, Renal, Type 1

Congenital Absence Of Kidneys Syndrome

Congenital Absence Of Kidney

Aplastic Kidney

Renal Hypodysplasia/Aplasia 3

RHDA3

Renal Agenesis, Unilateral

Unilateral Renal Agenesis

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

Scoliosis
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Periventricular Leukomalacia

Leukomalacia, Periventricular

Pvl

Leukomalacia Periventricular

Open-Angle Glaucoma

Glaucoma Simplex

Pigmentary Glaucoma

Wide-Angle Glaucoma

Glaucoma, Open-Angle

Open Angle Glaucoma

Glaucoma Open-Angle

Chronic Simple Glaucoma

Coag - [Chronic Open-Angle Glaucoma]

Csg - [Chronic Simple Glaucoma]

Poag - [Primary Open-Angle Glaucoma]

Oag - [Open-Angle Glaucoma]

Chronic Glaucoma

Chronic Open Angle Glaucoma

Simple Glaucoma

Chronic Noncongestive Glaucoma

Ltg - [Low Tension Glaucoma]

Noncongestive Glaucoma

Nonobstructive Glaucoma

Normal Pressure Glaucoma

Primary Low Tension Glaucoma

Low-Tension Glaucoma

Residual Stage Low Tension Glaucoma

Open Cleft Glaucoma

Sprengel Deformity

High Scapula

Sprengel'S Deformity

Congenital Elevation Of The Scapula

Congenital Upward Displacement Of The Scapula

Sprengel'S Shoulder

Congenital Elevation Of Scapula

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary

Ocular Hypertension

Hypertension, Ocular

Intraocular Pressure Increase

Oh - [Ocular Hypertension]

Oht - [Ocular Hypertension]

Glaucoma, Normal Tension

Low Tension Glaucoma

Glaucoma, Normal Tension, Susceptibility To

Normal Tension Glaucoma

Ntg

Glaucoma, Normal Pressure

NPG

Glaucoma, Normal Pressure, Susceptibility To

Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Ocular Pigment Dispersion With Or Without Glaucoma

Pigment Dispersion Syndrome

Glaucoma-Related Pigment Dispersion Syndrome

OPDG

Pds

Glaucoma, Pigment-Dispersion Type

Gpds1

Pigment-Dispersion Type Glaucoma

Pigment-Dispersion Syndrome

Glaucoma, Open-Angle

Glutathionuria

Gamma-Glutamyltransferase Deficiency

Ggt Deficiency

Gtg Deficiency

Gamma-Glutamyltranspeptidase Deficiency

Glutathioninuria

Gamma-Glutamyl Transpeptidase Deficiency

Gamma-Glutamyl Transferase Deficiency

Ggt1 Deficiency

GLUTH

Primary Angle-Closure Glaucoma

Primary Angle Closure Glaucoma

Angle Closure Glaucoma

Acg - [Angle Closure Glaucoma]

Angle-Closure Glaucoma

Closed Angle Glaucoma

Acute Glaucoma

Prodromal Angle Closure Glaucoma

Phacogenic Glaucoma
Acute Closed-Angle Glaucoma

Acute Angle-Closure Glaucoma

Primary Congenital Glaucoma
Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

Intraocular Pressure Quantitative Trait Locus

Glaucoma

IOPQTL

Glaucoma, Susceptibility To

Postinfectious Glaucoma

Glaucoma With Ocular Inflammation

Glaucoma Secondary To Eye Inflammation

Traumatic Glaucoma

Glaucoma With Concussion Of Globe

Glaucoma Due To Ocular Trauma

Glaucoma Associated With Ocular Trauma

Glaucoma Secondary To Drugs

Gingival Fibromatosis

Hereditary Gingival Fibromatosis

Hereditary Gingival Hyperplasia

Autosomal Dominant Gingival Fibromatosis

Autosomal Dominant Gingival Hyperplasia

Fibromatosis, Gingival, Hereditary

Fibromatosis, Gingival

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

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
Felis catus TMCO1 VGNC VGNC:107951
Mus musculus TMCO1 MGD MGI:1921173
Canis familiaris TMCO1 VGNC VGNC:47431
Rattus norvegicus TMCO1 RGD RGD:1359178
Bos taurus TMCO1 VGNC VGNC:35928
Macaca mulatta TMCO1 VGNC VGNC:79118