1. Gene
  2. TEPSIN - TEPSIN adaptor related protein complex 4 accessory protein Gene

TEPSIN - TEPSIN adaptor related protein complex 4 accessory protein Gene

Homo sapiens

Also known as ENTHD2; C17orf56

Gene ID: 146705 | Gene type: protein coding

About TEPSIN

This gene has 13 transcripts (splice variants) and 185 orthologues. Ubiquitous expression in spleen (RPKM 10.7), bone marrow (RPKM 9.4) and 25 other tissues.

Summary

Located in coated vesicle membrane; nucleus; and trans-Golgi network membrane. Is extrinsic component of organelle membrane. Colocalizes with AP-4 adaptor complex. [provided by Alliance of Genome Resources, Apr 2022]

TEPSIN Products(2)

mRNA Protein Name
NM_001363764.2 NP_001350693.1 AP-4 complex accessory subunit tepsin isoform 1
NM_144679.3 NP_653280.1 AP-4 complex accessory subunit tepsin isoform 2

TEPSIN Protein Structure

ENTH

ENTH: ENTH domain (24 - 131)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 525 a.a.
Protein Preferred Names Protein Names

AP-4 complex accessory subunit tepsin

AP-4 accessory protein

Related Diseases

Diseases Alias
Spastic Paraplegia 50, Autosomal Recessive

Hereditary Spastic Paraplegia 50

SPG50

Ap-4 Deficiency Syndrome

Ap-4-Associated Hereditary Spastic Paraplegia

Adaptor Protein Complex 4 Deficiency

Cerebral Palsy, Spastic Quadriplegic, 3, Formerly

Cpsq3, Formerly

Autosomal Recessive Spastic Paraplegia 50

Cpsq3

Spastic Quadriplegic Cerebral Palsy 3

Ap-4 Deficiency

Ap-4-Associated Hsp

Paraplegia, Spastic, Autosomal Recessive, Type 50

Spastic Paraplegia-50, Autosomal Recessive

Hermansky-Pudlak Syndrome 2

HPS2

Hermansky Pudlak Syndrome 2

Platelet Defects And Oculocutaneous Albinism

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 2

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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
Canis familiaris TEPSIN VGNC VGNC:47251
Felis catus TEPSIN VGNC VGNC:66081
Bos taurus TEPSIN VGNC VGNC:35747
Macaca mulatta TEPSIN VGNC VGNC:79613
Rattus norvegicus TEPSIN RGD RGD:1307410
Mus musculus TEPSIN MGD MGI:1926027