AKIRIN1 - akirin 1 Gene

Also Known as STRF2; C1orf108

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79647

About AKIRIN1

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:38,991,276-39,006,059 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 41.1), bone marrow (RPKM 25.3) and 25 other tissues.

Summary

Predicted to enable transcription coregulator activity. Predicted to be involved in several processes, including myoblast migration involved in skeletal muscle regeneration; negative regulation of satellite cell differentiation; and positive regulation of lamellipodium assembly. Located in nuclear membrane and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

AKIRIN1 Products (2)

mRNA Protein Name
NM_001136275.2 NP_001129747.1 akirin-1 isoform 2
NM_024595.3 NP_078871.1 akirin-1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
18066067 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
Protein Preferred Names Protein Names

akirin-1

AKIRIN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AKIRIN1 Q9H9L7 GOPC Homo sapiens Q9HD26 25416956
Intra
AKIRIN1 Q9H9L7 GOPC Homo sapiens Q9HD26 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Metacarpal 4-5 Fusion
  • Syndactyly Type 8

  • MF4

  • Fusion Of Metacarpals 4 And 5

  • Metacarpals 4 And 5 Fusion

  • Metacarpal 4 5 Fusion

Myopathy, Centronuclear, 1
  • Autosomal Dominant Centronuclear Myopathy

  • CNM1

  • Centronuclear Myopathy 1

  • Ad-Cnm

  • Myopathy, Centronuclear, Autosomal Dominant

  • Myotubular Myopathy, Autosomal Dominant

  • Centronuclear Myopathy, Autosomal, Modifier Of

  • Autosomal Dominant Myotubular Myopathy

  • Dnm2-Related Centronuclear Myopathy

  • Centronuclear Myopathy Autosomal Dominant

  • Myopathies, Structural, Congenital

  • Myopathy, Centronuclear, Type 1

Neuronopathy, Distal Hereditary Motor, Type Iia
  • HMN2A

  • Hmn Iia

  • Neuropathy, Distal Hereditary Motor, Type Iia

  • Dhmn2a

  • Distal Hereditary Motor Neuronopathy Type 2a

  • Distal Hereditary Motor Neuropathy Type Iia

  • Neuronopathy, Distal Hereditary Motor, Type 2a

  • Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia

  • Charcot-Marie-Tooth Disease, Spinal, Iia

  • Autosomal Dominant Adult Spinal Muscular Atrophy Iia

  • Spinal Charcot-Marie-Tooth Disease Iia

  • Neuronopathy, Distal Hereditary Motor, 2a

  • Charcot-Marie-Tooth Disease Spinal Iia

  • Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia

  • Neuropathy, Motor, Distal, Hereditary, Type 2a

Syndactyly, Type Iii
  • Syndactyly Type 3

  • SDTY3

  • Ring And Little Finger Syndactyly

  • Syndactyly Of Fingers Iv And V

  • Syndactyly Of Fingers 4 And 5

  • Ringand Little Finger Syndactyly

  • Syndactyly Of Fingers Four And Five

  • Syndactyly Of The Ring And Little Finger

  • Sd3

  • Syndactyly 3

  • Syndactyly Type Iii

  • 4-5 Finger Syndactyly

  • Syndactyly, Type 3

Brachydactyly, Type B2
  • Brachydactyly Type B2

  • BDB2

  • Brachydactyly B2

Nemaline Myopathy 11, Autosomal Recessive
  • NEM11

  • Nemaline Myopathy 11

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
Bos taurus AKIRIN1 VGNC VGNC:25793
Canis familiaris AKIRIN1 VGNC VGNC:37765
Felis catus AKIRIN1 VGNC VGNC:80132
Rattus norvegicus AKIRIN1 RGD RGD:1585989
Macaca mulatta AKIRIN1 VGNC VGNC:99841
Mus musculus AKIRIN1 MGD MGI:1915300
Others AKIRIN1 NCBI