2. Gene
  3. COL14A1 - collagen type XIV alpha 1 chain Gene

COL14A1 - collagen type XIV alpha 1 chain Gene

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

中文名称：XIV 型胶原蛋白 alpha 1 链

种属: Homo sapiens

同用名: UND

基因 ID: 7373 | 基因类型: protein coding

关于 COL14A1

Cytogenetic location: 8q24.12 Genomic coordinates (GRCh38): 8:120,123,757-120,373,573 (from NCBI)

This gene has 8 transcripts (splice variants), 279 orthologues, 12 paralogues and is associated with 1 phenotype. Broad expression in gall bladder (RPKM 64.7), placenta (RPKM 45.7) and 20 other tissues.

功能概要

该基因编码 XIV 型胶原蛋白的 α 链，它是 FACIT (具有中断的三螺旋的原纤维相关胶原蛋白) 胶原蛋白家族的成员。 XIV 型胶原蛋白与原纤维表面相互作用，并参与原纤维形成的调节。[RefSeq 提供，2013 年 1 月]

This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]

COL14A1 基因产物(13)

mRNA Protein Name
NM_001384947.1 NP_001371876.1 collagen alpha-1(XIV) chain isoform 2 precursor
NM_001413490.1 NP_001400419.1 collagen alpha-1(XIV) chain isoform 1 precursor
NM_001413491.1 NP_001400420.1 collagen alpha-1(XIV) chain isoform 2 precursor
NM_001413492.1 NP_001400421.1 collagen alpha-1(XIV) chain isoform 3 precursor
NM_001413493.1 NP_001400422.1 collagen alpha-1(XIV) chain isoform 1 precursor
NM_001413494.1 NP_001400423.1 collagen alpha-1(XIV) chain isoform 2 precursor
NM_001413495.1 NP_001400424.1 collagen alpha-1(XIV) chain isoform 4 precursor
NM_001413496.1 NP_001400425.1 collagen alpha-1(XIV) chain isoform 5 precursor
NM_001413497.1 NP_001400426.1 collagen alpha-1(XIV) chain isoform 6 precursor
NM_001413498.1 NP_001400427.1 collagen alpha-1(XIV) chain isoform 7 precursor
NM_001413499.1 NP_001400428.1 collagen alpha-1(XIV) chain isoform 8
NM_001413500.1 NP_001400429.1 collagen alpha-1(XIV) chain isoform 9
NM_021110.4 NP_066933.1 collagen alpha-1(XIV) chain isoform 1 precursor

COL14A1 蛋白结构

fn3

fn3: Fibronectin type III domain (32 - 109)

VWA

VWA: von Willebrand factor type A domain (158 - 328)

fn3

fn3: Fibronectin type III domain (355 - 430)

fn3

fn3: Fibronectin type III domain (450 - 520)

fn3

fn3: Fibronectin type III domain (536 - 613)

fn3

fn3: Fibronectin type III domain (628 - 700)

fn3

fn3: Fibronectin type III domain (738 - 817)

fn3

fn3: Fibronectin type III domain (831 - 907)

fn3

fn3: Fibronectin type III domain (922 - 993)

VWA

VWA: von Willebrand factor type A domain (1032 - 1205)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1462 - 1510)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1514 - 1570)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1554 - 1609)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1653 - 1705)

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  • 1796 a.a.
蛋白主名 其他名称

collagen alpha-1(XIV) chain

collagen, type XIV, alpha 1

关联疾病

疾病名称 别名
Palmoplantar Keratoderma, Punctate Type Ia

Keratosis Palmoplantaris Papulosa

Punctate Palmoplantar Keratoderma Type I

Ppkp1

Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type

PPKP1A

Kppp1

Punctate Palmoplantar Keratoderma Type 1

Palmoplantar Keratoderma, Punctate Type 1a

Palmoplantar Keratoderma, Punctate Type I

Keratoderma, Palmoplantar, Punctate Type Ia

Punctate Palmoplantar Keratoderma Type 1a

Punctate Palmoplantar Keratoderma Type 1b

Brauer-Buschke-Fischer Syndrome

Keratoderma, Palmoplantar Punctate Type 1

Type I Punctate Palmoplantar Keratoderma

Buschke-Fischer-Brauer Syndrome

Keratoderma, Palmoplantar, Punctate 1a

Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type

Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type

Punctate Palmoplantar Keratoderma Type Ia

Keratoderma, Palmoplantar, Punctate Type 1

Keratoderma, Palmoplantar, Punctate, Type Ia
Punctate Palmoplantar Keratoderma

Punctate Palmoplantar Hyperkeratosis

Punctate Keratosis Palmoplantaris

Punctate Ppk
Palmoplantar Keratoderma, Punctate Type Ii

PPKP2

Porokeratosis Punctata Palmaris Et Plantaris

Pppp

Punctate Palmoplantar Keratoderma Type 2

Punctate Palmoplantar Keratoderma Type Ii

Punctate Palmoplantar Hyperkeratosis Type 2

Keratoderma Palmoplantar, Punctate Type 2

Type 2 Punctate Ppk

Keratoderma, Palmoplantar, Punctate Type Ii

Porokeratosis, Palmoplantar
Dental Anomalies And Short Stature

Brachyolmia-Amelogenesis Imperfecta Syndrome

Platyspondyly With Amelogenesis Imperfecta

DASS

Verloes Bourguignon Syndrome

Verloes-Bourguignon Syndrome

Vbs

Sthag6

Tooth Agenesis, Selective, 6

Tooth Agenesis, Selective, 6, Formerly

Sthag6, Formerly

Selective Tooth Agenesis 5

Amelogenesis Imperfecta And Platyspondyly

Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly

Platyspondyly-Amelogenesis Imperfecta 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

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-RS02964 COL14A1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta COL14A1 VGNC VGNC:71292
Bos taurus COL14A1 VGNC VGNC:53851
Canis familiaris COL14A1 VGNC VGNC:51768
Mus musculus COL14A1 MGD MGI:1341272
Felis catus COL14A1 VGNC VGNC:82364
Rattus norvegicus COL14A1 RGD RGD:1305806
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