1. Gene
  2. MLPH - melanophilin Gene

MLPH - melanophilin Gene

中文名称:黑色素

种属: Homo sapiens

同用名: SLAC2-A

基因 ID: 79083 | 基因类型: protein coding

关于 MLPH

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:237,486,410-237,555,322 (from NCBI)

This gene has 23 transcripts (splice variants), 262 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in stomach (RPKM 28.6), prostate (RPKM 26.5) and 12 other tissues.

功能概要

该基因编码 Rab 效应蛋白的 exophilin 亚家族成员。该蛋白质与 GTP 结合形式的小 Ras 相关 GTP 酶 Rab27A 和运动蛋白肌球蛋白 Va 形成三元复合物。小鼠中的一种类似蛋白质复合物的功能是将产生色素的细胞器 (称为黑素体) 束缚在黑素细胞中的肌动蛋白细胞骨架上,并且头发和皮肤中可见的色素沉着是必需的。该基因的突变导致 3 型 Griscelli 综合征,其特征是头发呈银灰色,毛干色素分布异常。已经为该基因发现了几种编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2013 年 7 月]

This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein Myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin Cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

MLPH 基因产物(4)

mRNA Protein Name
NM_001042467.3 NP_001035932.1 melanophilin isoform 2
NM_001281473.2 NP_001268402.1 melanophilin isoform 3
NM_001281474.2 NP_001268403.1 melanophilin isoform 4
NM_024101.7 NP_077006.1 melanophilin isoform 1

MLPH 蛋白结构

FYVE_2

FYVE_2: FYVE-type zinc finger (8 - 125)

Rab_eff_C

Rab_eff_C: Rab effector MyRIP/melanophilin C-terminus (456 - 511)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600 a.a.
蛋白主名 其他名称

melanophilin

exophilin-3

MLPH 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
MLPH Q9BV36 RAB27A Homo sapiens P51159-1 12446441
种属内
MLPH Q9BV36 BLOC1S6 Homo sapiens Q9UL45 32296183
种属内
MLPH Q9BV36 RAB27A Homo sapiens P51159 12897212
种属内
MLPH Q9BV36 RAB27A Homo sapiens P51159 33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Griscelli Syndrome, Type 3

Griscelli Syndrome Type 3

GS3

Griscelli-Prunieras Syndrome Type 3

Hypomelanosis With No Immunologic Or Neurologic Manifestations

Griscelli Syndrome 3

Griscelli Syndrome

Chediak-Higashi-Like Syndrome

Griscelli-Prunieras Syndrome

Partial Albinism-Immunodeficiency Syndrome

Griscelli Disease

Gs

Hypopigmentation Immunodeficiency Disease

Partial Albinism With Immunodeficiency

Immunodeficiency Syndrome With Hypopigmentation

Hypopigmentation-Immunodeficiency Disease

Piebald Trait

Piebaldism

PBT

Partial Albinism

Albinoidism, Oculocutaneous, Autosomal Dominant

Griscelli Syndrome, Type 2

Griscelli Syndrome Type 2

GS2

Griscelli Syndrome With Hemophagocytic Syndrome

Partial Albinism And Immunodeficiency Syndrome

Paid Syndrome

Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome

Griscelli-Prunieras Syndrome Type 2

Griscelli-Pruniéras Syndrome Type 2

Griscelli Syndrome 2

Griscelli Syndrome, Type 1

Griscelli Syndrome Type 1

GS1

Griscelli Syndrome With Neurologic Impairment

Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome

Griscelli Syndrome, Cutaneous And Neurologic Type

Griscelli-Prunieras Syndrome Type 1

Hypopigmentation-Neurologic Impairment Syndrome

Griscelli Syndrome With Neurological Impairment

Griscelli Syndrome, Cutaneous And Neurological Type

Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts

Griscelli Syndrome 1

Griscelli Syndrome With Primary Neurologic Impairment

Psoriasis 15

Psors15

Fetishism

Fetishism, Psychiatric

Mucinoses
Familial Cold Autoinflammatory Syndrome 2

FCAS2

Nlrp12-Associated Hereditary Periodic Fever Syndrome

Familial Cold Autoinflammatory Syndrome Type 2

Familial Cold-Induced Autoinflammatory Syndrome Type 2

Naps12

Familial Cold Autoinflammatory Syndrome 2, Susceptibility To

Autoinflammatory Syndrome, Cold, Familial, Type 2

Microvillus Inclusion Disease

Congenital Microvillous Atrophy

Intractable Diarrhea Of Infancy

Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

Davidson Disease

Microvillous Inclusion Disease

Congenital Microvillus Atrophy

Mvid

Diarrhea 2 With Microvillus Atrophy

Mvd

Congenital Familial Protracted Diarrhea

Davidson'S Disease

Familial Enteropathy, Microvillus

Microvillus Atrophy, Congenital

Congenital Enteropathy

Familial Protracted Enteropathy

Microvillous Atrophy

Microvillus Atrophy With Diarrhea 2

Idi

Chediak-Higashi Syndrome

CHS

Chédiak-Higashi Syndrome

Chediak - Steinbrinck Anomaly

Chediak Higashi Syndrome

Chediak-Steinbrinck-Higashi Syndrome

Oculocutaneous Albinism With Leukocyte Defect

Chediak-Higashi Disease

Chediak-Higashi-Steinbrink Syndrome

Dyschromatosis Universalis Hereditaria

Duh

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

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 MLPH MGD MGI:2176380
Bos taurus MLPH VGNC VGNC:31506
Rattus norvegicus MLPH RGD RGD:1310733
Macaca mulatta MLPH VGNC VGNC:99383
Canis familiaris MLPH VGNC VGNC:43265
Felis catus MLPH VGNC VGNC:63526