1. Gene
  2. CA14 - carbonic anhydrase 14 Gene

CA14 - carbonic anhydrase 14 Gene

中文名称:碳酸酐酶 14

种属: Homo sapiens

同用名: CAXiV

基因 ID: 23632 | 基因类型: protein coding

关于 CA14

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:150,257,774-150,265,078 (from NCBI)

This gene has 6 transcripts (splice variants), 210 orthologues and 14 paralogues. Biased expression in brain (RPKM 3.3), skin (RPKM 1.4) and 12 other tissues.

功能概要

碳酸酐酶 (CA) 是一大类锌金属酶,可催化二氧化碳的可逆水合。它们参与多种生物过程,包括呼吸、钙化、酸碱平衡、骨吸收以及房水、脑脊液、唾液和胃酸的形成。它们在组织分布和亚细胞定位方面表现出广泛的多样性。 CA XIV 被预测为 I 型膜蛋白,与其他跨膜 CA 亚型 CA XII 具有最高的序列相似性;然而,它们具有不同的组织特异性表达模式,因此可能发挥不同的生理作用。[RefSeq 提供,2008 年 7 月]

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the Other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]

CA14 基因产物(1)

mRNA Protein Name
NM_012113.3 NP_036245.1 carbonic anhydrase 14 precursor

CA14 蛋白结构

Carb_anhydrase

Carb_anhydrase: Eukaryotic-type carbonic anhydrase (22 - 278)

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  • 337 a.a.
蛋白主名 其他名称

carbonic anhydrase 14

CA-XIV

重组 CA14 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72867 Carbonic Anhydrase 14 Protein, Human (HEK293, His) Q9ULX7/NP_036245.1 (A16-M290) ≥95%

关联疾病

疾病名称 别名
Malignant Gastric Teratoma

Malignant Teratoma Of Stomach

Immature Gastric Teratoma

Malignant Gastric Germ Cell Tumor

Germ Cell Tumor Of The Stomach

Germ Cell Tumour Of The Stomach

Malignant Gastric Germ Cell Tumour

Intracranial Hypertension, Idiopathic

Pseudotumor Cerebri

Idiopathic Intracranial Hypertension

Benign Intracranial Hypertension

Iih

Benign Intracran. Hypt.

Gastric Teratoma

Teratoma Of Stomach

Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis

Marble Brain Disease

OPTB3

Guibaud-Vainsel Syndrome

Carbonic Anhydrase Ii Deficiency

Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis

Autosomal Recessive Osteopetrosis 3

Carbonic Anhydrase 2 Deficiency

Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis

Osteopetrosis Autosomal Recessive 3

Autosomal Recessive Osteopetrosis Type 3

Guibaud Vainsel Syndrome

Mixed Rta

Mixed Renal Tubular Acidosis

Renal Tubular Acidosis Type 3

Carbonic Anhydrase Ii Deficiency Syndrome

Carbonic Anhydrase Ii Variant

Osteopetrosis, Autosomal Recessive, Type 3

Carbonic Anhydrase 2

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Mus musculus CA14 MGD MGI:1344341
Bos taurus CA14 VGNC VGNC:26652
Macaca mulatta CA14 VGNC VGNC:70489
Rattus norvegicus CA14 RGD RGD:1599277
Felis catus CA14 VGNC VGNC:60244
Canis familiaris CA14 VGNC VGNC:38609
Others CA14 NCBI