1. Gene
  2. SLC35B1 - solute carrier family 35 member B1 Gene

SLC35B1 - solute carrier family 35 member B1 Gene

中文名称:溶质载体家族 35 成员 B1

种属: Homo sapiens

同用名: AXER; UGTREL1

基因 ID: 10237 | 基因类型: protein coding

关于 SLC35B1

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:49,700,943-49,708,197 (from NCBI)

This gene has 20 transcripts (splice variants), 203 orthologues and 3 paralogues. Ubiquitous expression in thyroid (RPKM 24.3), duodenum (RPKM 18.7) and 25 other tissues.

功能概要

该基因编码的核苷酸糖转运蛋白是溶质载体家族 35 的成员。该家族中的转运蛋白是高度保守的疏水蛋白,具有多个跨膜结构域。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2013 年 7 月]

This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

SLC35B1 基因产物(2)

mRNA Protein Name
NM_001278784.2 NP_001265713.1 solute carrier family 35 member B1 isoform 2
NM_005827.4 NP_005818.3 solute carrier family 35 member B1 isoform 1

SLC35B1 蛋白结构

UAA

UAA: UAA transporter family (16 - 315)

  • 0
  • 100
  • 200
  • 300
  • 322 a.a.
蛋白主名 其他名称

solute carrier family 35 member B1

ATP/ADP exchanger ER

关联疾病

疾病名称 别名
Barre-Lieou Syndrome

Cervicocranial Syndrome

Posterior Cervical Sympathetic Syndrome

Dicarboxylic Aminoaciduria

Glutamate-Aspartate Transport Defect

Dicarboxylicaminoaciduria

DCBXA

Renal Aminoacidurias

Bardet-Biedl Syndrome 10

BBS10

Bardet-Biedl Syndrome

Bbs

Bardet-Biedl Syndrome, Type 10

Hydranencephaly

Hydroanencephaly

Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Chromosome 1q21.1 Deletion Syndrome

1q21.1 Microdeletion Syndrome

Monosomy 1q21.1

1q21.1 Microdeletion

Chromosome 1q21.1 Microdeletion Syndrome

1q21.1 Contiguous Gene Deletion

1q21.1 Deletion

Del(1)(Q21)

1q21.1 Deletion Syndrome

Retinitis Pigmentosa 12

RP12

Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium

Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium

Rp With Or Without Pprpe

Retinitis Pigmentosa-12

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 SLC35B1 MGD MGI:1343133
Rattus norvegicus SLC35B1 RGD RGD:727783
Macaca mulatta SLC35B1 VGNC VGNC:77533
Canis familiaris SLC35B1 VGNC VGNC:46364
Bos taurus SLC35B1 VGNC VGNC:34823
Felis catus SLC35B1 VGNC VGNC:65324