1. Gene
  2. IST1 - IST1 factor associated with ESCRT-III Gene

IST1 - IST1 factor associated with ESCRT-III Gene

Homo sapiens

Also known as OLC1; CHMP8

Gene ID: 9798 | Gene type: protein coding

About IST1

Cytogenetic location: 16q22.2 Genomic coordinates (GRCh38): 16:71,894,408-71,931,199 (from NCBI)

This gene has 27 transcripts (splice variants) and 218 orthologues. Ubiquitous expression in bone marrow (RPKM 49.3), gall bladder (RPKM 37.7) and 25 other tissues.

Summary

This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

IST1 Products(6)

mRNA Protein Name
NM_001270975.2 NP_001257904.1 IST1 homolog isoform a
NM_001270976.1 NP_001257905.1 IST1 homolog isoform c
NM_001270977.2 NP_001257906.1 IST1 homolog isoform d
NM_001270978.2 NP_001257907.1 IST1 homolog isoform e
NM_001270979.1 NP_001257908.1 IST1 homolog isoform e
NM_014761.4 NP_055576.2 IST1 homolog isoform b

IST1 Protein Structure

Ist1

Ist1: Regulator of Vps4 activity in the MVB pathway (25 - 190)

  • 0
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  • 300
  • 379 a.a.
Protein Preferred Names Protein Names

IST1 homolog

IST1, ESCRT-III associated factor

Related Diseases

Diseases Alias
Gastric Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Stomach

Squamous Cell Carcinoma Of The Stomach

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

Spastic Paraplegia 10, Autosomal Dominant

SPG10

Hereditary Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia Type 10

Spastic Paraplegia 10

Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

Autosomal Dominant Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia

Spastic Paraplegia, Autosomal Dominant

Paraplegia, Spastic, Autosomal Dominant, Type 10

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

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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
Macaca mulatta IST1 VGNC VGNC:73675
Canis familiaris IST1 VGNC VGNC:49862
Rattus norvegicus IST1 RGD RGD:1307799
Bos taurus IST1 VGNC VGNC:30304
Felis catus IST1 VGNC VGNC:62980
Mus musculus IST1 MGD MGI:1919205
Others IST1 NCBI