TMCO1 - transmembrane and coiled-coil domains 1 Gene

Also Known as PCIA3; TMCC4; CFSMR1; HP10122; PNAS-136

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54499

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium channel activity	IDA IDA: Inferred from direct assay	27212239	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables ribosome binding	IDA IDA: Inferred from direct assay	32820719	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ER overload response	IDA IDA: Inferred from direct assay	27212239	GOA
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	27212239	GOA
involved in endoplasmic reticulum calcium ion homeostasis	IDA IDA: Inferred from direct assay	27212239	GOA
involved in multi-pass transmembrane protein insertion into ER membrane	IDA IDA: Inferred from direct assay	36261522	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	27212239	GOA
part of multi-pass translocon complex	IDA IDA: Inferred from direct assay	36261522	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMCO1 Protein Structure

DUF106

0
100
188 a.a.

Protein Preferred Names	Protein Names
calcium load-activated calcium channel	CLAC channel

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14632	TMCO1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	TMCO1	NCBI