1. Gene
  2. SLC25A44 - solute carrier family 25 member 44 Gene

SLC25A44 - solute carrier family 25 member 44 Gene

中文名称:溶质载体家族 25 成员 44

种属: Homo sapiens

基因 ID: 9673 | 基因类型: protein coding

关于 SLC25A44

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,194,104-156,212,796 (from NCBI)

This gene has 6 transcripts (splice variants), 264 orthologues and 49 paralogues. Ubiquitous expression in brain (RPKM 13.3), kidney (RPKM 10.2) and 25 other tissues.

功能概要

SLC25A44 属于线粒体载体蛋白的 SLC25 家族 (Haitina 等人,2006 [PubMed 16949250]) 。[OMIM 提供,2008 年 3 月]

SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

SLC25A44 基因产物(8)

mRNA Protein Name
NM_001286184.2 NP_001273113.1 solute carrier family 25 member 44 isoform 1
NM_001377385.1 NP_001364314.1 solute carrier family 25 member 44 isoform 1
NM_001377386.1 NP_001364315.1 solute carrier family 25 member 44 isoform 2
NM_001377387.1 NP_001364316.1 solute carrier family 25 member 44 isoform 2
NM_001377388.1 NP_001364317.1 solute carrier family 25 member 44 isoform 2
NM_001377389.1 NP_001364318.1 solute carrier family 25 member 44 isoform 3
NM_001377390.1 NP_001364319.1 solute carrier family 25 member 44 isoform 3
NM_014655.4 NP_055470.1 solute carrier family 25 member 44 isoform 2
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in branched-chain amino acid catabolic process IMP
IMP: 通过突变表型推断
31435015 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLC25A44 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (22 - 104)

Mito_carr

Mito_carr: Mitochondrial carrier protein (106 - 211)

Mito_carr

Mito_carr: Mitochondrial carrier protein (223 - 302)

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

solute carrier family 25 member 44

关联疾病

疾病名称 别名
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Casil

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Familial Vascular Leukoencephalopathy

CADASIL1

Cadasil 1

Hereditary Multi-Infarct Dementia

Cadasil Syndrome

Dementia, Hereditary Multiinfarct Type

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

Dementia, Hereditary Multi-Infarct Type

Hereditary Dementia, Multi-Infarct Type

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

Dementia Hereditary Multiinfarct Type

Dementia Hereditary Multi-Infarct Type

Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Brain Small Vessel Disease
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
Rattus norvegicus SLC25A44 RGD RGD:1307244
Felis catus SLC25A44 VGNC VGNC:65278
Bos taurus SLC25A44 VGNC VGNC:34769
Canis familiaris SLC25A44 VGNC VGNC:46315
Mus musculus SLC25A44 MGD MGI:2444391