2. Gene
  3. EPB41L4A - erythrocyte membrane protein band 4.1 like 4A Gene

EPB41L4A - erythrocyte membrane protein band 4.1 like 4A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：红细胞膜蛋白带 4.1 样 4A

种属: Homo sapiens

同用名: NBL4; EPB41L4

基因 ID: 64097 | 基因类型: protein coding

关于 EPB41L4A

Cytogenetic location: 5q22.1-q22.2 Genomic coordinates (GRCh38): 5:112,141,829-112,419,935 (from NCBI)

This gene has 10 transcripts (splice variants), 188 orthologues and 10 paralogues. Ubiquitous expression in gall bladder (RPKM 6.8), thyroid (RPKM 6.5) and 25 other tissues.

功能概要

该基因编码的蛋白质是 band 4.1 蛋白质超家族的成员。这个超家族的成员被认为在调节细胞骨架和质膜之间的相互作用中发挥重要作用，并且包含一个结合血型糖蛋白 C 的氨基末端保守结构域。该基因产物被认为参与了 β-连环蛋白信号通路。[RefSeq 提供，2016 年 12 月]

The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the Cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]

EPB41L4A 基因产物(3)

mRNA Protein Name
NM_001347887.2 NP_001334816.1 band 4.1-like protein 4A isoform 1
NM_001347888.2 NP_001334817.1 band 4.1-like protein 4A isoform 3
NM_022140.5 NP_071423.4 band 4.1-like protein 4A isoform 2

EPB41L4A 蛋白结构

FERM_N

FERM_N: FERM N-terminal domain (15 - 100)

FERM_M

FERM_M: FERM central domain (102 - 211)

FERM_C

FERM_C: FERM C-terminal PH-like domain (217 - 300)

FA

FA: FERM adjacent (FA) (310 - 356)

  • 0
  • 200
  • 400
  • 600
  • 686 a.a.
蛋白主名 其他名称

band 4.1-like protein 4A

erythrocyte protein band 4.1-like 4

关联疾病

疾病名称 别名
Failure Of Tooth Eruption, Primary

Primary Failure Of Tooth Eruption

PFE

Primary Retention Of Teeth

Unerupted Second Primary Molar

Dental Noneruption

Familial Posterior Openbite Malocclusion

Primary Failure Of Tooth Eruption, Nonsyndromic

Posterior Openbite Malocclusion, Familial

Nonsyndromic Primary Failure Of Eruption

Dental Non-Eruption

Non-Syndromic Primary Failure Of Eruption

Tooth Eruption, Failure, Primary
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04414 EPB41L4A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus EPB41L4A RGD RGD:1306034
Bos taurus EPB41L4A VGNC VGNC:28523
Mus musculus EPB41L4A MGD MGI:103007
Canis familiaris EPB41L4A VGNC VGNC:40396
Felis catus EPB41L4A VGNC VGNC:61895
Macaca mulatta EPB41L4A VGNC VGNC:72039
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