Format

Send to:

Choose Destination

AKNAD1 AKNA domain containing 1 [ Homo sapiens (human) ]

Gene ID: 254268, updated on 1-Aug-2020

Summary

Official Symbol
AKNAD1provided by HGNC
Official Full Name
AKNA domain containing 1provided by HGNC
Primary source
HGNC:HGNC:28398
See related
Ensembl:ENSG00000162641
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C1orf62
Summary
This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Expression
Restricted expression toward testis (RPKM 5.4) See more
Orthologs

Genomic context

See AKNAD1 in Genome Data Viewer
Location:
1p13.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (108815901..108858244, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109358520..109400864, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene fibronectin type III domain containing 7 Neighboring gene N-acetylneuraminic acid phosphatase pseudogene Neighboring gene syntaxin binding protein 3 Neighboring gene uncharacterized LOC105378891 Neighboring gene uncharacterized LOC107985159 Neighboring gene spermatogenesis associated 42 Neighboring gene G protein signaling modulator 2 Neighboring gene chloride channel CLIC like 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
NHGRI GWA Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Potential readthrough

Included gene: CLCC1

Homology

Clone Names

  • MGC26989

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032762.1 RefSeqGene

    Range
    6149..47342
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152763.5NP_689976.2  protein AKNAD1

    See identical proteins and their annotated locations for NP_689976.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AL449266, AL832216
    Consensus CDS
    CCDS791.2
    UniProtKB/Swiss-Prot
    Q5T1N1
    Related
    ENSP00000359018.3, ENST00000370001.8
    Conserved Domains (1) summary
    pfam12443
    Location:327421
    AKNA; AT-hook-containing transcription factor

RNA

  1. NR_049760.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5 ' exon and lacks several internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK095517, AL449266
    Related
    ENST00000474186.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    108815901..108858244 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center