1. Gene
  2. LCTL - lactase like Gene

LCTL - lactase like Gene

中文名称:乳糖酶样

种属: Homo sapiens

同用名: KLG; KLPH

基因 ID: 197021 | 基因类型: protein coding

关于 LCTL

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:66,547,532-66,565,998 (from NCBI)

This gene has 8 transcripts (splice variants), 249 orthologues and 4 paralogues. Broad expression in testis (RPKM 4.1), lymph node (RPKM 0.7) and 20 other tissues.

功能概要

该基因编码家族 1 糖苷酶的成员。糖苷酶是水解糖苷键的酶,根据一级氨基酸序列分为多个家族。家族 1 的大多数成员有两个保守的谷氨酸残基,这是酶活性所必需的。该蛋白质的小鼠直系同源物已被表征,具有 N 末端信号肽、糖苷酶结构域、跨膜结构域和短胞质尾的结构域。它缺少一种对催化很重要的保守谷氨酸残基,其功能仍有待确定 (PMID: 12084582) 。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 6 月]

This gene encodes a member of family 1 glycosidases. Glycosidases are Enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which are required for enzymatic activity. The mouse ortholog of this protein has been characterized and has a domain structure of an N-terminal signal peptide, Glycosidase domain, transmembrane domain, and a short cytoplasmic tail. It lacks one of the conserved glutamic acid residues important for catalysis, and its function remains to be determined (PMID: 12084582). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

LCTL 基因产物(4)

mRNA Protein Name
NM_001278562.3 NP_001265491.1 lactase-like protein isoform 2
NM_001394632.1 NP_001381561.1 lactase-like protein isoform 3
NM_001394633.1 NP_001381562.1 lactase-like protein isoform 4
NM_207338.4 NP_997221.2 lactase-like protein isoform 1 precursor

LCTL 蛋白结构

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (35 - 502)

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  • 567 a.a.
蛋白主名 其他名称

lactase-like protein

KL lactase phlorizin hydrolase

关联疾病

疾病名称 别名
Metacarpal 4-5 Fusion

Syndactyly Type 8

MF4

Fusion Of Metacarpals 4 And 5

Metacarpals 4 And 5 Fusion

Metacarpal 4 5 Fusion

Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age

Brooke-Spiegler Syndrome

Cyld Cutaneous Syndrome

Spiegler-Brooke Syndrome

Familial Cylindromatosis

BRSS

Bss

Sbs

Multiple Familial Trichoepithelioma

Ancell-Spiegler Cylindromas

Familial Multiple Trichoepithelioma

Trichoepithelioma

Fc

Mft

Multiple Familial Trichoepitheliomas

Ccs

Turban Tumor Syndrome

Schilbach-Rott Syndrome

Eccrine Dermal Cylindroma

Familial Multiple Trichoepitheliomata

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
Macaca mulatta LCTL VGNC VGNC:74049
Rattus norvegicus LCTL RGD RGD:1305177
Bos taurus LCTL VGNC VGNC:30820
Mus musculus LCTL MGD MGI:2183549
Canis familiaris LCTL VGNC VGNC:58312
Felis catus LCTL VGNC VGNC:63206