1. Gene
  2. LAMA5 - laminin subunit alpha 5 Gene

LAMA5 - laminin subunit alpha 5 Gene

中文名称:层粘连蛋白亚基α5

种属: Homo sapiens

同用名: BBDS2; NPHS26

基因 ID: 3911 | 基因类型: protein coding

关于 LAMA5

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:62,309,065-62,367,312 (from NCBI)

This gene has 14 transcripts (splice variants), 197 orthologues, 27 paralogues and is associated with 1 phenotype. Broad expression in skin (RPKM 18.3), placenta (RPKM 17.0) and 24 other tissues.

功能概要

该基因编码脊椎动物层粘连蛋白α链之一。层粘连蛋白是细胞外基质糖蛋白家族,是基底膜的主要非胶原成分。它们涉及多种生物过程,包括细胞粘附、分化、迁移、信号传导、神经突生长和转移。层粘连蛋白由 3 条不相同的链组成:层粘连蛋白 alpha、beta 和 gamma (以前分别为 A、B1 和 B2) ,它们形成十字形结构,由 3 个短臂组成,每个短臂由不同的链组成,长臂由不同的链组成所有 3 条链。每条层粘连蛋白链都是由不同基因编码的多结构域蛋白质。该基因编码的蛋白质是层粘连蛋白 10 (层粘连蛋白 511) 、层粘连蛋白 11 (层粘连蛋白 521) 和层粘连蛋白 15 (层粘连蛋白 523) 的α5 亚基。[RefSeq 提供,2013 年 6 月]

This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]

LAMA5 基因产物(1)

mRNA Protein Name
NM_005560.6 NP_005551.3 laminin subunit alpha-5 precursor

LAMA5 蛋白结构

Laminin_N

Laminin_N: Laminin N-terminal (Domain VI) (46 - 298)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (300 - 351)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (359 - 426)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (429 - 470)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (494 - 535)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (541 - 582)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (587 - 628)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (632 - 673)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (677 - 725)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (776 - 826)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (829 - 867)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1438 - 1486)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1528 - 1573)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1577 - 1625)

Laminin_B

Laminin_B: Laminin B (Domain IV) (1693 - 1829)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1830 - 1852)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1864 - 1910)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1913 - 1966)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1969 - 2020)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (2023 - 2067)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (2070 - 2117)

Laminin_I

Laminin_I: Laminin Domain I (2190 - 2450)

Laminin_II

Laminin_II: Laminin Domain II (2632 - 2761)

Laminin_G_2

Laminin_G_2: Laminin G domain (2779 - 2901)

Laminin_G_2

Laminin_G_2: Laminin G domain (2971 - 3095)

Laminin_G_2

Laminin_G_2: Laminin G domain (3153 - 3268)

Laminin_G_2

Laminin_G_2: Laminin G domain (3372 - 3498)

Laminin_G_2

Laminin_G_2: Laminin G domain (3551 - 3672)

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  • 3695 a.a.
蛋白主名 其他名称

laminin subunit alpha-5

laminin alpha-5 chain

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 26

NPHS26

Bent Bone Dysplasia Syndrome 2

BBDS2

Lama5-Related Multisystemic Syndrome
Vitreous Detachment

Posterior Vitreous Detachment

Vitreous Syneresis

Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

Nephronophthisis-Like Nephropathy 1

NPHPL1

Nephronophthisis-Like Nephropathy, Type 1

Fraser Syndrome 1

Fraser Syndrome

Cryptophthalmos With Other Malformations

Cryptophthalmos Syndrome

FRASRS1

Cryptophthalmos-Syndactyly Syndrome

Fraser-Francois Syndrome

Cyclopism

Meyer-Schwickerath'S Syndrome

Ulrich-Feichtiger Syndrome

Cryptophthalmos Syndactyly Syndrome

Fraser'S Syndrome

Meyer-Schwickerath Syndrome

Ullrich-Feichtiger Syndrome

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Pierson Syndrome

Microcoria-Congenital Nephrotic Syndrome

Microcoria-Congenital Nephrosis Syndrome

PIERS

Microcoria - Congenital Nephrosis

Microcoria - Congenital Nephrotic Syndrome

PIERSS

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Peripheral Retinal Degeneration

Peripheral Degeneration Of Retina

Degeneration Of Retina Nos

Reticular Retinal Degeneration

Retinal Degeneration

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

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

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional

Jeb

Epidermolysis Bullosa Atrophicans

Congenital Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Junctional

Junctional Eb - [Epidermolysis Bullosa]

Jeb - [Junctional Epidermolysis Bullosa]

Lucidolytic Epidermolysis Bullosa

Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration 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 LAMA5 VGNC VGNC:30771
Felis catus LAMA5 VGNC VGNC:82877
Rattus norvegicus LAMA5 RGD RGD:621023
Mus musculus LAMA5 MGD MGI:105382