1. Gene
  2. AKIRIN1 - akirin 1 Gene

AKIRIN1 - akirin 1 Gene

Homo sapiens

Also known as STRF2; C1orf108

Gene ID: 79647 | Gene type: protein coding

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
Protein Preferred Names Protein Names

akirin-1

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