1. Gene
  2. SLC7A4 - solute carrier family 7 member 4 Gene

SLC7A4 - solute carrier family 7 member 4 Gene

中文名称:溶质载体家族 7 成员 4

种属: Homo sapiens

同用名: VH; CAT4; CAT-4; HCAT3

基因 ID: 6545 | 基因类型: protein coding

关于 SLC7A4

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:21,028,718-21,032,561 (from NCBI)

This gene has 3 transcripts (splice variants), 265 orthologues and 12 paralogues. Biased expression in testis (RPKM 11.6), esophagus (RPKM 3.0) and 12 other tissues.

功能概要

预测可启用氨基酸跨膜转运蛋白活性。预计参与氨基酸转运。预计是膜的组成部分。预计在质膜上有活性。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable amino acid transmembrane transporter activity. Predicted to be involved in amino acid transport. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC7A4 基因产物(1)

mRNA Protein Name
NM_004173.3 NP_004164.2 cationic amino acid transporter 4

SLC7A4 蛋白结构

AA_permease_2

AA_permease_2: Amino acid permease (37 - 419)

AA_permease_C

AA_permease_C: C-terminus of AA_permease (540 - 590)

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  • 635 a.a.
蛋白主名 其他名称

cationic amino acid transporter 4

Ig heavy chain variable region

关联疾病

疾病名称 别名
Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome

Rubeosis Iridis
Breast Apocrine Carcinoma

Apocrine Carcinoma Of Breast

Apocrine Breast Carcinoma

Chromophobe Adenoma

Adenoma, Chromophobe

Chromophobe Adenoma Of The Pituitary Gland

Adenoma Chromophobe

Heparin Cofactor Ii Deficiency

Thrombophilia Due To Heparin Cofactor Ii Deficiency

THPH10

Hcf Ii Deficiency

Hcf2 Deficiency

Thrombophilia 10 Due To Heparin Cofactor Ii Deficiency

Hcf 2 Deficiency

Thrombophilia Due To Heparin Cofactor 2 Deficiency

Thrombophilia, Due To Heparin Cofactor Ii Deficiency

Vestibular Nystagmus

Nystagmus Associated With Disorder Of The Vestibular System

Spondylolysis

Acquired Spondylolysis

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 SLC7A4 VGNC VGNC:108056
Felis catus SLC7A4 VGNC VGNC:65426
Rattus norvegicus SLC7A4 RGD RGD:1305905
Bos taurus SLC7A4 VGNC VGNC:34930
Mus musculus SLC7A4 MGD MGI:2146512
Canis familiaris SLC7A4 VGNC VGNC:46475