2. Gene
  3. COL25A1 - collagen type XXV alpha 1 chain Gene

COL25A1 - collagen type XXV alpha 1 chain Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：XXV 型胶原蛋白 alpha 1 链

种属: Homo sapiens

同用名: AMY; CLAC; CLACP; CFEOM5; CLAC-P

基因 ID: 84570 | 基因类型: protein coding

关于 COL25A1

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:108,808,725-109,302,658 (from NCBI)

This gene has 8 transcripts (splice variants), 137 orthologues, 37 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 1.9), fat (RPKM 1.8) and 13 other tissues.

功能概要

该基因编码大脑特异性膜相关胶原蛋白。编码蛋白的蛋白水解加工产物 CLAC (胶原性阿尔茨海默淀粉样斑块成分) 与阿尔茨海默淀粉样斑块中发现的淀粉样蛋白 β 肽结合，但 CLAC 抑制而不是促进淀粉样蛋白原纤维伸长 (PMID：16300410) 。然而，一项关于这种胶原蛋白在小鼠体内过度表达的研究发现，病理学和行为发生了变化，表明编码的蛋白质可能促进淀粉样斑块的形成 (PMID: 19548013) 。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2011 年 12 月]

This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

COL25A1 基因产物(3)

mRNA Protein Name
NM_001256074.3 NP_001243003.1 collagen alpha-1(XXV) chain isoform 3
NM_032518.4 NP_115907.2 collagen alpha-1(XXV) chain isoform 2
NM_198721.4 NP_942014.1 collagen alpha-1(XXV) chain isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables amyloid-beta binding IDA
IDA: 通过直接分析推断
11927537 GOA
enables heparin binding IDA
IDA: 通过直接分析推断
15522881 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
15522881 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular region IDA
IDA: 通过直接分析推断
11927537 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
11927537 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
11927537 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

COL25A1 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (122 - 163)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (313 - 369)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (372 - 425)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (448 - 503)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (500 - 555)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (535 - 586)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (574 - 631)

  • 0
  • 200
  • 400
  • 600
  • 654 a.a.
蛋白主名 其他名称

collagen alpha-1(XXV) chain

alzheimer disease amyloid-associated protein

关联疾病

疾病名称 别名
Fibrosis Of Extraocular Muscles, Congenital, 5

CFEOM5

Congenital Fibrosis Of The Extraocular Muscles 5

Fibrosis Of Extraocular Muscles, Congenital, Type 5
Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis
Antisocial Personality Disorder

Dissocial Personality Disorder

Asocial Personality

Psychopath.Personality

Psychopathic Personality

Psychopathic Personality Disorder

Sociopathic Personality
Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris
Dystonia 27

DYT27

Primary Dystonia, Dyt27 Type

Dystonia, Type 27
Fibrosis Of Extraocular Muscles, Congenital, 1

Fibrosis Of Extraocular Muscles, Congenital, 3b

CFEOM1

Blepharoptosis With Absent Eye Movements

Congenital Fibrosis Of The Extraocular Muscles 1

Congenital Fibrosis Of Extraocular Muscles Type 1

Fibrosis

Ophthalmoplegia, Congenital

Feom1 Locus

Congenital Ophthalmoplegia

Feom1

CFEOM3B

Fibrosis, Extraocular Muscles, Congenital, Type 1

Congenital Fibrosis Of The Extraocular Muscles
Tukel Syndrome

Cfeom-U

Congenital Fibrosis Of The Extraocular Muscles 4

Fibrosis Of Extraocular Muscles, Congenital, With Ulnar Hand Anomalies

Fibrosis Of Extraocular Muscles, Congenital, 4

Cfeom4

Congenital Extraocular Muscle Fibrosis With Ulnar Hand Anomalies

Congenital Fibrosis Of The Extraocular Muscles
Deafness, X-Linked 6

DFNX6

X-Linked Deafness 6

Deafness, X-Linked, 6

Deafness, X-Linked, Type 6
Personality Disorder

Personality Disorders

Character Disorder

Personality

Specific Personality Disorders

Enduring Personality Change After Psychiatric Illness
Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome
Myasthenic Syndrome, Congenital, 19

Congenital Myasthenic Syndrome 19

CMS19

Myasthenic Syndrome, Congenital, Type 19
Hypertropia
Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs
Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02977 COL25A1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris COL25A1 VGNC VGNC:57403
Mus musculus COL25A1 MGD MGI:1924268
Bos taurus COL25A1 VGNC VGNC:53695
Rattus norvegicus COL25A1 RGD RGD:1590105
Macaca mulatta COL25A1 VGNC VGNC:81374
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