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

Summary

Official Symbol: KLHDC7Aprovided by HGNC
Official Full Name: kelch domain containing 7Aprovided by HGNC
Primary source: HGNC:HGNC:26791
See related: Ensembl:ENSG00000179023 AllianceGenome:HGNC:26791
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
Summary: Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 1p36.13

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (18480930..18485974)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (18301029..18306073)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (18807424..18812468)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results suggest that LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms influence the development of diabetic retinopathy (DR).
Title: Association between LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms and diabetic retinopathy of type 2 diabetes mellitus in the Chinese Han population.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analysis for severe diabetic retinopathy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: kelch domain-containing protein 7A

NCBI Reference Sequences (RefSeq)

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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)

NM_152375.3 → NP_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, Q8N8W6

UniProtKB/TrEMBL

A7E2V3

Related

ENSP00000383505.1, ENST00000400664.3

Conserved Domains (4) summary

smart00612
Location:542 → 589

Kelch; Kelch domain

sd00038
Location:531 → 575

Kelch; KELCH repeat [structural motif]

pfam01344
Location:578 → 619

Kelch_1; Kelch motif

cl06652
Location:430 → 470

BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains