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KLHDC7A kelch domain containing 7A [ Homo sapiens (human) ]

Gene ID: 127707, updated on 22-Aug-2020

Summary

Official Symbol
KLHDC7Aprovided by HGNC
Official Full Name
kelch domain containing 7Aprovided by HGNC
Primary source
HGNC:HGNC:26791
See related
Ensembl:ENSG00000179023
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Orthologs

Genomic context

See KLHDC7A in Genome Data Viewer
Location:
1p36.13
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (18480930..18485974)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (18807424..18812540)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1654 Neighboring gene immunoglobin superfamily member 21 Neighboring gene IGSF21 antisense RNA 1 Neighboring gene dynein light chain LC8-type 1 pseudogene 3 Neighboring gene PAX7 promoter region Neighboring gene paired box 7

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide meta-analysis for severe diabetic retinopathy.
GeneReviews: Not available

General gene information

Markers

Homology

Clone Names

  • FLJ38753

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
kelch domain-containing protein 7A

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.

mRNA and Protein(s)

  1. NM_152375.3NP_689588.2  kelch domain-containing protein 7A

    See identical proteins and their annotated locations for NP_689588.2

    Status: VALIDATED

    Source sequence(s)
    AL591896
    Consensus CDS
    CCDS185.2
    UniProtKB/Swiss-Prot
    Q5VTJ3
    Related
    ENSP00000383505.1, ENST00000400664.2
    Conserved Domains (4) summary
    smart00612
    Location:542589
    Kelch; Kelch domain
    sd00038
    Location:531575
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:578619
    Kelch_1; Kelch motif
    cl06652
    Location:430470
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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
    18480930..18485974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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