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  2. HHIP - hedgehog interacting protein Gene

HHIP - hedgehog interacting protein Gene

中文名称:刺猬相互作用蛋白

种属: Homo sapiens

同用名: HIP

基因 ID: 64399 | 基因类型: protein coding

关于 HHIP

Cytogenetic location: 4q31.21 Genomic coordinates (GRCh38): 4:144,646,156-144,745,271 (from NCBI)

This gene has 8 transcripts (splice variants), 206 orthologues and 2 paralogues. Biased expression in lung (RPKM 8.1), brain (RPKM 4.1) and 12 other tissues.

功能概要

该基因编码刺猬相互作用蛋白 (HHIP) 家族的成员。 Hedgehog (HH) 蛋白是进化上保守的蛋白,是广泛发育过程的重要形态发生素,包括四肢的前后模式和胚胎发育中左右不对称的调节。多个细胞表面受体负责转导和/或调节 HH 信号。由该基因编码的 HHIP 是一种高度保守的脊椎动物特异性 HH 信号抑制剂。它与所有三个 HH 家族成员 SHH、IHH 和 DHH 相互作用。该基因附近的两个单核苷酸多态性 (SNP) 与慢性阻塞性肺病 (COPD) 的风险显着相关。该基因中的单核苷酸多态性也与人类身高密切相关。[RefSeq 提供,2011 年 2 月]

This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The Hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]

HHIP 基因产物(1)

mRNA Protein Name
NM_022475.3 NP_071920.1 hedgehog-interacting protein precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables hedgehog family protein binding IPI
IPI: 通过物理相互作用推断
19561611 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19561609 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
19561609 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of signal transduction IDA
IDA: 通过直接分析推断
19561609 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

HHIP 蛋白结构

Folate_rec

Folate_rec: Folate receptor family (38 - 220)

GSDH

GSDH: Glucose / Sorbosone dehydrogenase (228 - 438)

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

hedgehog-interacting protein

HHIP 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
HHIP Q96QV1 SHH Homo sapiens Q15465
NMR
19561609
种属内
HHIP Q96QV1 SHH Homo sapiens Q15465 19561609
种属内
HHIP Q96QV1 SHH Homo sapiens Q15465 19561609
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
Acrocapitofemoral Dysplasia

ACFD

Dysplasia, Acrocapitofemoral

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Brachydactyly, Type A1

Brachydactyly Type A1

BDA1

Farabee-Type Brachydactyly

Farabee Type Brachydactyly

Brachydactyly Farabee Type

Brachydactyly, Farabee Type

Brachydactyly A1

Brachydactyly

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome

Gorlin Syndrome

Nbccs

BCNS

Gorlin-Goltz Syndrome

Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

Cerebral Gigantism Jaw Cysts

Cramer Niederdellmann Syndrome

Gorlin Syndrome Or Gorlin-Goltz Syndrome

Naevoid Basal Cell Carcinoma Syndrome

Neonatal Respiratory Failure

Respiratory Failure Of Newborn

Inadequate Pulmonary Ventilation Of Newborn

Newborn Lung Insufficiency

Newborn Pulmonary Function Inadequate

Newborn Pulmonary Insufficiency

Newborn Respiration Failure

Newborn Respiratory Insufficiency

Respiratory Insufficiency Syndrome Of Newborn

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

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 HHIP MGD MGI:1341847
Bos taurus HHIP VGNC VGNC:29840
Rattus norvegicus HHIP RGD RGD:1564108
Canis familiaris HHIP VGNC VGNC:41681
Felis catus HHIP VGNC VGNC:62809
Macaca mulatta HHIP VGNC VGNC:73169