2. Gene
  3. ITCH - itchy E3 ubiquitin protein ligase Gene

ITCH - itchy E3 ubiquitin protein ligase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AIF4; AIP4; ADMFD; NAPP1

Gene ID: 83737 | Gene type: protein coding

About ITCH

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,363,273-34,511,773 (from NCBI)

This gene has 19 transcripts (splice variants), 285 orthologues, 24 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 12.7), esophagus (RPKM 11.6) and 25 other tissues.

Summary

This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating Enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

ITCH Products(5)

mRNA Protein Name
NM_001257137.3 NP_001244066.1 E3 ubiquitin-protein ligase Itchy homolog isoform 1
NM_001257138.3 NP_001244067.1 E3 ubiquitin-protein ligase Itchy homolog isoform 3
NM_001324197.2 NP_001311126.1 E3 ubiquitin-protein ligase Itchy homolog isoform 1
NM_001324198.2 NP_001311127.1 E3 ubiquitin-protein ligase Itchy homolog isoform 2
NM_031483.7 NP_113671.3 E3 ubiquitin-protein ligase Itchy homolog isoform 2

ITCH Protein Structure

C2

C2: C2 domain (20 - 98)

WW

WW: WW domain (328 - 357)

WW

WW: WW domain (360 - 389)

WW

WW: WW domain (440 - 469)

WW

WW: WW domain (480 - 509)

HECT

HECT: HECT-domain (ubiquitin-transferase) (599 - 901)

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  • 903 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase Itchy homolog

HECT-type E3 ubiquitin transferase Itchy homolog

Recombinant ITCH Proteins

Cat. No. Product Name Accession Purity
HY-P75894 ITCH/AIP4 Protein, Human (solution) NP_113671.3 (N-G&P, R485-E862) ≥95%
HY-P75894A ITCH/AIP4 Protein, Human Q96J02-2/NP_113671.3 (R485-E862) ≥95%

Related Diseases

Diseases Alias
Autoimmune Disease, Multisystem, With Facial Dysmorphism

Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency

ADMFD

Syndromic Multisystem Autoimmune Disease
Itch E3 Ubiquitin Ligase Deficiency

Autoimmune Disease, Syndromic Multisystem

Syndromic Multisystem Autoimmune Disease
Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease
Influenza

Flu

Influenza With Non-Respiratory Manifestation

Influenza With Other Manifestations

Influenza, Human

Influenza, Susceptibility To

Seasonal Influenza, Virus Identified
Immunodeficiency 58

IMD58

Severe Combined Immunodeficiency Due To Carmil2 Deficiency

Combined Immunodeficiency Due To Carmil2 Deficiency

Combined Immunodeficiency Due To Rltpr Deficiency
Spastic Paraplegia 20, Autosomal Recessive

Troyer Syndrome

SPG20

Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting

Spastic Paraplegia, Autosomal Recessive, Troyer Type

Autosomal Recessive Spastic Paraplegia Type 20

Autosomal Recessive Hereditary Spastic Paraplegia

Spastic Paraplegia 20

Cross-Mckusick Syndrome

Autosomal Recessive Spastic Paraplegia 20

Autosomal Recessive Spastic Paraplegia Troyer Type

Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting

Hereditary Spastic Paraplegia 20

Spastic Paraplegia Type 20

Hereditary Spastic Paraplegia

Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome

Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting

Spastic Paraplegia Autosomal Recessive Troyer Type

Trs

Spastic Paraplegia Hereditary Autosomal Recessive

Spastic Paraplegia, Hereditary
Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal
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

Related Agents

Approval
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-B0548A Hydroxyzine dihydrochloride Antagonist 99.81% Unkown
HY-B1183 Hydrocortisone acetate Agonist 99.14% Yes
HY-B0548 Hydroxyzine Antagonist 99.60% Unkown
Inhibitory Antibodies (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-P99025 Lebrikizumab Inhibitor 99.90% Unkown
HY-P99162 Nemolizumab Inhibitor / Unkown
Clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Phase
HY-106566 Alclometasone dipropionate ≥96.0% Phase 2
HY-14939 Vapitadine / Phase 2
Pre-clinical Phase
Bioactive Molecules (26)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-129047 Trypsin Activator / Unkown
HY-103368 Eact Activator 98.14% Unkown
HY-148244 MS47134 99.88% Unkown
HY-103320A Calhex 231 hydrochloride Inhibitor 99.81% Unkown
HY-118069 (R)-ZINC-3573 Agonist 99.81% Unkown
HY-147051 MRGPRX4 modulator-2 99.64% Unkown
HY-145997 MRGPRX4 modulator-1 99.09% Unkown
HY-129047A Trypsin (MS grade) Activator 95.00% Unkown
HY-136642 Fluocinolone 99.66% Yes
HY-148949 Kallikrein 5-IN-2 98.69% Unkown
HY-B1144A Chlormidazole hydrochloride Inhibitor 98.98% Unkown
HY-103320B (1R,2R)-Calhex 231 hydrochloride 99.07% Unkown
HY-145153 S-777469 Agonist 98.83% Unkown
HY-108425 AMG8379 Antagonist / Unkown
HY-108425B (Rac)-AMG8379 Antagonist / Unkown
HY-103320 Calhex 231 Antagonist / Unkown
HY-108425A AMG8380 Antagonist / Unkown
HY-143481 Nav1.8-IN-2 Inhibitor / Unkown
HY-157496 EP3 antagonist 7 Antagonist / Unkown
HY-163840 GFRα2/3-IN-1 / Unkown
HY-P1192 GR-73632 Agonist 99.98% Unkown
HY-P5357 SFNGGP-NH2 / Unkown
HY-RS06943 ITCH Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-124356 Alcaftadine carboxylic acid / Unkown
HY-135495 AM-0466 / Unkown
HY-N12040 γ-Isofagarine / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris ITCH VGNC VGNC:42117
Macaca mulatta ITCH VGNC VGNC:73589
Rattus norvegicus ITCH RGD RGD:1359556
Bos taurus ITCH VGNC VGNC:30307
Mus musculus ITCH MGD MGI:1202301
Felis catus ITCH VGNC VGNC:80122
Others ITCH NCBI