1. Gene
  2. KLHL15 - kelch like family member 15 Gene

KLHL15 - kelch like family member 15 Gene

中文名称:kelch 样家族成员 15

种属: Homo sapiens

同用名: XLID103; HEL-S-305

基因 ID: 80311 | 基因类型: protein coding

关于 KLHL15

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:23,983,720-24,027,186 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 54 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 22.1), testis (RPKM 14.8) and 22 other tissues.

功能概要

该基因编码 kelch 样蛋白家族的一个成员,它们共享一个共同的结构域结构,该结构由 N 末端宽复合物、tramtrack、bric-a-brac/poxvirus 和锌指结构域以及 C 末端 kelch 重复基序组成。编码的蛋白质可能参与蛋白质泛素化和细胞骨架组织。[RefSeq 提供,2009 年 4 月]

This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009]

KLHL15 基因产物(1)

mRNA Protein Name
NM_030624.3 NP_085127.2 kelch-like protein 15
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25036637 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: 通过直接分析推断
27561354 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Cul3-RING ubiquitin ligase complex IDA
IDA: 通过直接分析推断
27561354 GOA
located in nucleus IDA
IDA: 通过直接分析推断
27561354 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

KLHL15 蛋白结构

BTB

BTB: BTB/POZ domain (22 - 126)

BACK

BACK: BTB And C-terminal Kelch (146 - 236)

Kelch_1

Kelch_1: Kelch motif (344 - 366)

Kelch_1

Kelch_1: Kelch motif (368 - 409)

Kelch_1

Kelch_1: Kelch motif (477 - 529)

Kelch_1

Kelch_1: Kelch motif (532 - 571)

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

kelch-like protein 15

epididymis secretory protein Li 305

KLHL15 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
种属间
KLHL15 Q96M94 Dcx Mus musculus O88809
Anti Tag CoIP
33199366
种属内
KLHL15 Q96M94 DCLK1 Homo sapiens O15075
Anti Tag CoIP
33199366
种属内
KLHL15 Q96M94 DCLK2 Homo sapiens Q8N568
Anti Tag CoIP
33199366
种属内
KLHL15 Q96M94 NUDCD3 Homo sapiens Q8IVD9
Anti Tag CoIP
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
Intellectual Developmental Disorder, X-Linked 103

XLID103

Mrx103

Mental Retardation, X-Linked 103

Mental Retardation, X-Linked, Type 103

Non-Syndromic X-Linked Intellectual Disability 103

Mrx103

X-Linked Mental Retardation 103

Syndromic X-Linked Intellectual Disability Turner Type

Mental Retardation, X-Linked Syndromic, Turner Type

Intellectual Disability, X-Linked Syndromic, Turner Type

Brooks-Wisniewski-Brown Syndrome

Mental Retardation And Macrocephaly Syndrome

Mrxst

X-Linked Intellectual Disability, Brooks Type

Mental Retardation, X-Linked, Syndromic, Turner Type

Ataxia, Sensory, 1, Autosomal Dominant

Autosomal Dominant Sensory Ataxia 1

SNAX1

Adsa

Ataxia, Sensory, Type 1, Autosomal Dominant

Ataxia, Sensory, Autosomal Dominant

Neuronopathy, Distal Hereditary Motor, Type Iid

HMN2D

Hmn Iid

Dhmn2d

Distal Hereditary Motor Neuronopathy Type 2d

Distal Hereditary Motor Neuropathy Type Iid

Neuronopathy, Distal Hereditary Motor, Type 2d

Neuropathy, Distal Hereditary Motor, Type Iid

Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant

Distal Spinal Muscular Atrophy With Calf Predominance

Neuronopathy, Distal Hereditary Motor, 2d

Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant

Dhmn Iid

Neuropathy, Motor, Distal, Hereditary, Type 2d

Non-Syndromic X-Linked Intellectual Disability 101

Mrx101

X-Linked Mental Retardation 101

Charcot-Marie-Tooth Disease, Axonal, Type 2r

Charcot-Marie-Tooth Disease Type 2r

CMT2R

Charcot-Marie-Tooth Neuropathy, Type 2r

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r

Charcot-Marie-Tooth Disease, Type 2r

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r

Charcot-Marie-Tooth Neuropathy Type 2r

Charcot-Marie-Tooth Disease 2r

Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r

Charcot-Marie-Tooth Disease Axonal Type 2r

Charcot-Marie-Tooth Neuropathy Axonal Type 2r

Retinitis Pigmentosa 31

RP31

Retinitis Pigmentosa-31

Retinitis Pigmentosa, Type 31

Syndromic X-Linked Intellectual Disability Cabezas Type

Cabezas Syndrome

Syndromic X-Linked Mental Retardation 15

Mental Retardation, X-Linked, Syndromic 15

Mrss

Mrxs15

Mrxsc

X-Linked Mental Retardation With Short Stature

X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait

Mental Retardation, X-Linked, With Short Stature

Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait

Charcot-Marie-Tooth Disease, Axonal, Type 2p

CMT2P

Charcot-Marie-Tooth Disease Axonal Type 2p

Charcot-Marie-Tooth Disease Type 2p

Charcot-Marie-Tooth Neuropathy, Type 2p

Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly

Cmt2g, Formerly

Charcot-Marie-Tooth Neuropathy Type 2p

Charcot-Marie-Toothe Disease, Axonal, Type 2p

Charcot-Marie-Tooth Disease 2p

Charcot-Marie-Tooth Disease, Axonal Type 2g

Charcot-Marie-Tooth Neuropathy Axonal Type 2p

Cmt2g

Charcot-Marie-Tooth Disease, Type 2p

Charcot-Marie-Tooth Disease, Axonal, Type 2g

Kaufman Oculocerebrofacial Syndrome

KOS

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Oculocerebrofacial Syndrome, Kaufman Type

Bpids

Blepharophimosis Ptosis Intellectual Disability Syndrome

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet

Bpid Syndrome

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii

Distal Hereditary Motor Neuropathy Type 2

Distal Hereditary Motor Neuropathy Type Ii

Hmn Ii

Hmn2

Distal Hereditary Motor Neuronopathy, Type Ii

Distal Spinal Muscular Atrophy Type 2

Dhmn2

Dsma2

Neuropathy, Motor, Distal, Hereditary, Type Ii

Spinal Muscular Atrophy, Jerash Type

Gordon Holmes Syndrome

Cerebellar Ataxia And Hypogonadotropic Hypogonadism

Lhrh Deficiency And Ataxia

Cerebellar Ataxia-Hypogonadism Syndrome

GDHS

Cahh

Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia

Gordon-Holmes Syndrome

Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia

Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia

Cerebellar Ataxia - Hypogonadism

Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia

Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome

Lymphangiectasies And Lymphedema Hennekam Type

Generalized Lymphatic Dysplasia

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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
Bos taurus KLHL15 VGNC VGNC:30645
Felis catus KLHL15 VGNC VGNC:63145
Rattus norvegicus KLHL15 RGD RGD:1563101
Mus musculus KLHL15 MGD MGI:1923400
Canis familiaris KLHL15 VGNC VGNC:42451