1. Gene
  2. ANKFY1 - ankyrin repeat and FYVE domain containing 1 Gene

ANKFY1 - ankyrin repeat and FYVE domain containing 1 Gene

Homo sapiens

Also known as ANKHZN; BTBD23; ZFYVE14

Gene ID: 51479 | Gene type: protein coding

About ANKFY1

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:4,163,821-4,263,979 (from NCBI)

This gene has 14 transcripts (splice variants), 211 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 13.4), ovary (RPKM 10.3) and 25 other tissues.

Summary

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]

ANKFY1 Products(3)

mRNA Protein Name
NM_001257999.3 NP_001244928.1 rabankyrin-5 isoform 3
NM_001330063.2 NP_001316992.1 rabankyrin-5 isoform 4
NM_016376.5 NP_057460.3 rabankyrin-5 isoform 1

ANKFY1 Protein Structure

BTB

BTB: BTB/POZ domain (60 - 156)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (293 - 397)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (443 - 520)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (547 - 651)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (729 - 831)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (910 - 994)

FYVE

FYVE: FYVE zinc finger (1108 - 1163)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1169 a.a.
Protein Preferred Names Protein Names

rabankyrin-5

Rabankyrin-5

Related Diseases

Diseases Alias
Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Human Monocytic Ehrlichiosis

Ehrlichiosis Chafeensis

Hme

Human Ehrlichial Infection, Human Monocytic Type

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 ANKFY1 VGNC VGNC:69651
Rattus norvegicus ANKFY1 RGD RGD:1309598
Canis familiaris ANKFY1 VGNC VGNC:37872
Felis catus ANKFY1 VGNC VGNC:59789
Mus musculus ANKFY1 MGD MGI:1337008
Bos taurus ANKFY1 VGNC VGNC:25900
Others ANKFY1 NCBI