COL4A1 - collagen type IV alpha 1 chain Gene

Homo sapiens

Also known as BSVD; BSVD1; RATOR; PADMAL; COL4A1s

Gene ID: 1282 | Gene type: protein coding

About COL4A1

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:110,148,963-110,307,157 (from NCBI)

Biased expression in placenta (RPKM 204.1), fat (RPKM 72.2) and 9 other tissues.

Summary

This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

COL4A1 Products(2)

mRNA	Protein	Name
NM_001303110.2	NP_001290039.1	collagen alpha-1(IV) chain isoform 2 precursor
NM_001845.6	NP_001836.3	collagen alpha-1(IV) chain isoform 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables extracellular matrix structural constituent	IMP IMP: Inferred from mutant phenotype	20818663	GOA
enables extracellular matrix structural constituent conferring tensile strength	IMP IMP: Inferred from mutant phenotype	16107487	GOA
enables platelet-derived growth factor binding	IDA IDA: Inferred from direct assay	8900172	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12011424	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in basement membrane organization	IMP IMP: Inferred from mutant phenotype	18160688	GOA
involved in blood vessel morphogenesis	IMP IMP: Inferred from mutant phenotype	20818663	GOA
involved in brain development	IMP IMP: Inferred from mutant phenotype	16107487	GOA
involved in branching involved in blood vessel morphogenesis	IMP IMP: Inferred from mutant phenotype	20818663	GOA
involved in renal tubule morphogenesis	IMP IMP: Inferred from mutant phenotype	18160688	GOA
involved in retinal blood vessel morphogenesis	IMP IMP: Inferred from mutant phenotype	20818663	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of collagen type IV trimer	IMP IMP: Inferred from mutant phenotype	16107487	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

COL4A1 Protein Structure

Collagen

0
300
600
900
1200
1500
1669 a.a.

Protein Preferred Names

Protein Names

collagen alpha-1(IV) chain

COL4A1 NC1 domain

Recombinant COL4A1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71444	COL4A1 Protein, Human (GST)	P02462 (30G-167P)	≥95%

Related Diseases

Diseases

Alias

Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity	Retinal Hemorrhage With Vascular Tortuosity
RATOR	Tortuosity Of Retinal Arteries
Retinal Arteriolar Tortuosity	Familial Isolated Retinal Arterial Tortuosity
Tortuosity, Arteries, Retinal

Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps

Autosomal Dominant Familial Hematuria-Retinal Arteriolar Tortuosity-Contractures Syndrome	HANAC
Hereditary Angiopathy With Nephropathy, Aneurysms, And Muscle Cramps Syndrome	Hanac Syndrome
Hereditary Angiopathy-Nephropathy-Aneurysms-Muscle Cramps Syndrome	Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures
Hereditary Angiopathy With Nephropathy, Aneurysm, And Muscle Cramps Syndrome	Hereditary Angiopathy With Nephropathy Aneurysms And Muscle Cramps

Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant

PADMAL	Dementia, Hereditary Multi-Infarct, Swedish Type
Pontine Autosomal Dominant Microangiopathy With Leukoencephalopathy

Brain Small Vessel Disease 1 With Or Without Ocular Anomalies

BSVD1	Gould Syndrome 1
Hemiplegia, Infantile, With Porencephaly	Brain Small Vessel Disease With Hemorrhage
Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukoencephalopathy, Autosomal Dominant	Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
Leukoencephalopathy With Axenfeld-Rieger Anomaly	Porencephaly, Type 1, Formerly
T1p, Formerly	Porencephaly, Type 1, Autosomal Dominant, Formerly
Adt1p, Formerly	Porencephaly 1, Formerly
Poren1, Formerly	Brain Small Vessel Disease With Or Without Ocular Anomalies
Adt1p	Hemiplegia Infantile With Porencephaly Type 1
Poren1	Porencephaly 1
Porencephaly Type 1	Porencephaly Type 1 Autosomal Dominant
T1p	Porencephaly, Familial

Hemorrhage, Intracerebral

Intracerebral Hemorrhage	Hemorrhagic Stroke
ICH	Hemorrhage, Intracerebral, Susceptibility To
Stroke, Hemorrhagic	Stroke, Hemorrhagic, Susceptibility To
Brain Hemorrhage

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Porencephaly

Col4a1-Related Disorders

Col4a1-Related Disorder

Brain Small Vessel Disease 1

Col4a1-Related Brain Small Vessel Disease With Hemorrhage	Col4a1-Related Familial Vascular Leukoencephalopathy
Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome	Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy
Brain Small Vessel Disease With Axenfeld-Riegar Anomaly	Brain Small Vessel Disease With Hemorrhage
Brain Small Vessel Disease With Or Without Ocular Anomalies	Bsvd1
Infantile Hemiparesis	Leukoencephalopathy With Axenfeld-Riegar Anomaly

Familial Porencephaly

Familial Porencephalic White Matter Disease	Autosomal Dominant Porencephaly Type 1
Infantile Hemiplegia With Porencephaly	Porencephaly Type 1
Porencephaly, Familial

Schizencephaly

Familial Schizencephaly	Acquired Schizencephaly
SCHZC	Schizencephalia

Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia	Bilateral Optic Nerve Hypoplasia
Optic Nerve Hypoplasia, Familial Bilateral	Familial Bilateral Optic Nerve Hypoplasia
Isolated Optic Nerve Hypoplasia/Aplasia	Optic Nerve Aplasia, Bilateral
Onh	BONH
Bilateral Optic Nerve Aplasia	Hypoplasia, Optic Nerve, Bilateral

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Colpocephaly

Vesiculocephaly

Brain Small Vessel Disease

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

Cerebrovascular Disease

Cerebrovascular Disorder	Cerebrovascular Accident
Cerebrovascular Disorders	Cva
Stroke

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 1

Anterior Segment Dysgenesis 1

Anterior Segment Mesenchymal Dysgenesis	Anterior Segment Dysgenesis 1, Multiple Subtypes
ASGD1	Asmd
Anterior Segment Ocular Dysgenesis	Asod
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Ocular Anterior Segment Dysgenesis
Dysgenesis, Anterior Segment, Type 1	Axenfeld-Rieger Syndrome, Type 3
Irido-Corneal Dysgenesis

Hydranencephaly

Hydroanencephaly

Hemiplegia

Infantile Hemiplegia	Postnatal Infantile Hemiplegia
Hemiplegia, Infantile

Alport Syndrome

Hereditary Nephritis	Alport Syndrome, X-Linked
Hemorrhagic Hereditary Nephritis	Congenital Hereditary Hematuria
Hemorrhagic Familial Nephritis	Familial Nephritis
Thin Basement Membrane Disease	Thin Basement Membrane Nephropathy
Hematuria-Nephropathy-Deafness Syndrome	Hematuric Hereditary Nephritis
Hereditary Familial Congenital Hemorrhagic Nephritis	Hereditary Hematuria Syndrome
Hereditary Interstitial Pyelonephritis	Alport Deafness-Nephropathy
Alport Hearing Loss-Nephropathy	Alports Syndrome
Nephritis, Hereditary

Spastic Hemiplegia

Spastic Hemiplegic Cerebral Palsy	Hemiplegic Cerebral Palsy
Congenital Hemiplegia	Hemiplegic Infantile Cerebral Palsy
Cerebral Palsy Spastic Hemiplegic	Spastic Hemiplegia Cerebral Palsy
Hemiplegia, Spastic

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Crv
Rvcl	Rvcl-S
Vasculopathy, Retinal, With Cerebral Leukodystrophy	Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
Retinal Vasculopathy With Cerebral Leukodystrophy	Retinal Vasculopathy And Cerebral Leukoencephalopathy
Hereditary Vascular Retinopathy	Hvr
RVCLS	Cerebroretinal Vasculopathy, Hereditary
Cerebroretinal Vasculopathy	Herns
Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly	Hereditary Cerebroretinal Vasculopathy
Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke	Hereditary Systemic Angiopathy
Hsa	Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations
Adrvcl	Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy
Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke	Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Brain Small Vessel Disease 3

BSVD3

Brain Small Vessel Disease 2

Porencephaly 2	BSVD2
Gould Syndrome 2	Porencephaly 2, Formerly
Poren2, Formerly	Poren2

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Phacolytic Glaucoma

X-Linked Alport Syndrome

Nephropathy And Deafness, X-Linked

Pseudo-Torch Syndrome 1

Pseudo-Torch Syndrome	Band-Like Calcification With Simplified Gyration And Polymicrogyria
Blcpmg	PTORCH1
Baraitser-Brett-Piesowicz Syndrome	Baraitser-Reardon Syndrome
Bilateral Band-Like Calcification With Polymicrogyria	Blc-Pmg
Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome	Congenital Intrauterine Infection-Like Syndrome
Baraitser Brett Piesowicz Syndrome	Microcephaly - Intracranial Calcification - Intellectual Disability

Peters-Plus Syndrome

Krause-Kivlin Syndrome	Peters Plus Syndrome
Peters Anomaly	Irido-Corneo-Trabecular Dysgenesis
PTRPLS	Peters Anomaly With Short-Limb Dwarfism
Peters Anomaly-Short Limb Dwarfism Syndrome	Peters Anomaly With Short Limb Dwarfism
Peters Congenital Glaucoma	Krause-Van Schooneveld-Kivlin Syndrome
Peters' Plus Syndrome	Peters'-Plus Syndrome
Anomaly Peters

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Combined Oxidative Phosphorylation Deficiency 13

COXPD13	Combined Oxidative Phosphorylation Defect Type 13
Combined Oxidative Phosphorylation Deficiency, Type 13

Autosomal Recessive Alport Syndrome

Alport Syndrome, Recessive Type	Alport Syndrome, Autosomal Recessive
Alport Syndrome Autosomal Recessive	Alport Syndrome Recessive Type
Nephropathy And Deafness

Hematuria, Benign Familial

Benign Familial Hematuria	BFH
Thin Membrane Nephropathy	Tmn
Thin Basement Membrane Nephropathy	Thin-Basement-Membrane Nephropathy
Hematuria, Familial Benign	Hematuria Benign Familial
Hematuria, Benign, Familial	Thin Basement Membrane Disease

Keratoconus

Kc	Conical Cornea
Noninflammatory Corneal Thining	Bulging Cornea
Cornea Conical	Acquired Conus Of Cornea

Autosomal Dominant Alport Syndrome

Alport Syndrome, Autosomal Dominant	Alport Syndrome Dominant Type
Renal Failure And Sensorineural Hearing Loss	Alport Syndrome, Dominant Type

Aortic Valve Prolapse

Kidney Disease

Renal Failure	Kidney Failure
Kidney Diseases	Nephropathy
Abnormality Of The Kidney	Impaired Renal Function Disease
Renal Anomaly	Kidney Dysfunction
Renal Disease	Nephropathies
Renal Failure Adverse Event	Abnormal Renal Function

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil	Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
Casil	Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
Familial Vascular Leukoencephalopathy	CADASIL1
Cadasil 1	Hereditary Multi-Infarct Dementia
Cadasil Syndrome	Dementia, Hereditary Multiinfarct Type
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1	Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy	Dementia, Hereditary Multi-Infarct Type
Hereditary Dementia, Multi-Infarct Type	Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1	Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant
Dementia Hereditary Multiinfarct Type	Dementia Hereditary Multi-Infarct Type
Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy	Ppcd
Maumenee Corneal Dystrophy	Posterior Polymorphous Corneal Dystrophy 1
PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant	Schlichting Dystrophy
Ched1	Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Ched1, Formerly	Hereditary Polymorphus Posterior Corneal Dystrophy
Posterior Polymorphous Dystrophy	Hereditary Polymorphous Posterior Corneal Dystrophy
Dystrophy, Corneal, Posterior Polymorphous	Dystrophy, Corneal, Posterior Polymorphous, Type 1
Polymorphous Corneal Dystrophy	Corneal Endothelial Dystrophy 2

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Axenfeld-Rieger Syndrome

Axenfeld Syndrome	Rieger Syndrome
Rieger Anomaly	Axenfeld Anomaly
Anomaly, Rieger'S	Hagedoom Syndrome
Rgs - Rieger Syndrome	Rieger'S Anomaly
Goniodysgenesis Hypodontia	Iridogoniodysgenesis With Somatic Anomalies
Ars	Axenfeld And Rieger Anomaly
Axra	Axrs
Rieger Eye Malformation Sequence

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2

CADASIL2	Cadasil 2
Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2	Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease
Htra1-Related Autosomal Dominant Cerebral Angiopathy	Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Amebiasis

Amoebiasis	Entamoebiasis
Chronic Intestinal Amebiasis	Amoebiasis, Unspecified
Amebic Colitis	Amoebic Enteritis
Infection Due To Entamoeba Histolytica	Amoebic Infection
Disease Due To Endamoebidae	Amoebiasis Nos

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy	Ullrich Disease
Ucmd	Ullrich Scleroatonic Muscular Dystrophy
Scleroatonic Muscular Dystrophy	UCMD1
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22	Lgmdr22
Muscular Dystrophy, Scleroatonic	Late Onset Scleroatonic Familial Myopathy
Congenital Muscular Dystrophy, Ullrich Type

Meningioma, Familial

Meningioma	Familial Meningioma
Meningioma, Familial, Susceptibility To	Meningeal Neoplasm
Meningeal Neoplasms	Meningiomas
Meningioma, Nf2-Related, Somatic	Meningioma, Sis-Related
Meningothelial Cell Tumor	Neoplasm Of The Meninges
Primary Meningeal Tumor	Familial Multiple Meningioma
MNGMA	Meningioma, Benign, No Icd-O Subtype
Intracranial Meningioma	Meningothelial Cell Neoplasm
Supratentorial Meningioma	Primary Neoplasm Of Spinal Meninges
Benign Intracranial Meningioma	Benign Meningioma
Meningeal Tumours	Meningeal Sarcoma Of Unspecified Site
Meningothelial Sarcoma Of Unspecified Site

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Leukodystrophy

Leukodystrophies

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa	Foramen Ovale Patent
Ostium Secundum Atrial Septal Defect	Atrial Septal Defect, Ostium Secundum Type
Foramen Ovale, Patent	Defect, Patent Or Persistent, Ostium Secundum
Ostium Secundum Type Atrial Septal Defect	Persistent Ostium Secundum
Asd Ostium Secundum Type	Ostium Secundum Asd
Osasd	Asd, Ostium Secundum Type
Pfo - [Patent Foramen Ovale]	Open Foramen Ovale
Open Oval Foramen	Persistent Foramen Ovale
Secundum Atrial Septal Defect

Migraine With Or Without Aura 1

Migraine	Migraine With Or Without Aura, Susceptibility To, 1
Migraine Disorder	Migraine Variant
Migraines	Migraine Disorders
Mgr1	Mgau
Ma	Migraine With Or Without Aura
Classic Migraine	Common Migraine
Disorder, Migraine	Headache Migraine
Headache Migrainous	Migraine Headache
Migraine Syndrome	Headache Including Migraine
Migraine, Susceptibility To

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02983	COL4A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	COL4A1	VGNC	VGNC:39473
Felis catus	COL4A1	VGNC	VGNC:61060
Rattus norvegicus	COL4A1	RGD	RGD:1307148
Mus musculus	COL4A1	MGD	MGI:88454
Bos taurus	COL4A1	VGNC	VGNC:50081
Macaca mulatta	COL4A1	VGNC	VGNC:71297
Others	COL4A1	NCBI