TMCO1 - transmembrane and coiled-coil domains 1 Gene

Homo sapiens

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

Gene ID: 54499 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

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

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