HHIP - hedgehog interacting protein Gene

Also Known as HIP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64399

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_022475.3 NP_071920.1 hedgehog-interacting protein precursor
Molecular Function GO Annotation Evidence References Source
enables hedgehog family protein binding IPI
IPI: Inferred from physical interaction
19561611 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19561609 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
19561609 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of signal transduction IDA
IDA: Inferred from direct assay
19561609 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HHIP Protein Structure

Folate_rec

Folate_rec: Folate receptor family (38 - 220)

GSDH

GSDH: Glucose / Sorbosone dehydrogenase (228 - 438)

  • 0
  • 200
  • 400
  • 600
  • 700 a.a.
Protein Preferred Names Protein Names

hedgehog-interacting protein

HHIP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HHIP Q96QV1 SHH Homo sapiens Q15465
NMR
19561609
Intra
HHIP Q96QV1 SHH Homo sapiens Q15465 19561609
Intra
HHIP Q96QV1 SHH Homo sapiens Q15465 19561609
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others HHIP NCBI