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KLHDC8A kelch domain containing 8A [ Homo sapiens (human) ]

Gene ID: 55220, updated on 1-Jun-2020

Summary

Official Symbol
KLHDC8Aprovided by HGNC
Official Full Name
kelch domain containing 8Aprovided by HGNC
Primary source
HGNC:HGNC:25573
See related
Ensembl:ENSG00000162873 MIM:614503
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
Summary
This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Expression
Biased expression in ovary (RPKM 76.6) and adrenal (RPKM 7.3) See more
Orthologs

Genomic context

See KLHDC8A in Genome Data Viewer
Location:
1q32.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (205336061..205357090, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205305193..205326218, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TMCC2 antisense RNA 1 Neighboring gene transmembrane and coiled-coil domain family 2 Neighboring gene NUAK family kinase 2 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 10 Neighboring gene uncharacterized LOC105371698 Neighboring gene LEMD1 antisense RNA 1 Neighboring gene LEM domain containing 1 Neighboring gene bladder cancer associated transcript 1 Neighboring gene microRNA 135b

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10748

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
kelch domain-containing protein 8A
Names
S-delta-E1
substitute for delta-EGFR expression 1

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_001271863.1NP_001258792.1  kelch domain-containing protein 8A

    See identical proteins and their annotated locations for NP_001258792.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1,2,3, and 4 encode the same protein.
    Source sequence(s)
    AA908205, AC098936, AI698122, AK096590, BC036076, DB055006
    Consensus CDS
    CCDS30985.1
    UniProtKB/Swiss-Prot
    Q8IYD2
    UniProtKB/TrEMBL
    A0A024R981
    Related
    ENSP00000356124.3, ENST00000367156.7
    Conserved Domains (2) summary
    sd00038
    Location:2165
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:5209
    BTB; Broad-Complex, Tramtrack and Bric a brac
  2. NM_001271864.1NP_001258793.1  kelch domain-containing protein 8A

    See identical proteins and their annotated locations for NP_001258793.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1,2,3, and 4 encode the same protein.
    Source sequence(s)
    AA908205, AI698122, AK096590, DA682691, DB055006
    Consensus CDS
    CCDS30985.1
    UniProtKB/Swiss-Prot
    Q8IYD2
    UniProtKB/TrEMBL
    A0A024R981
    Conserved Domains (2) summary
    sd00038
    Location:2165
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:5209
    BTB; Broad-Complex, Tramtrack and Bric a brac
  3. NM_001271865.1NP_001258794.1  kelch domain-containing protein 8A

    See identical proteins and their annotated locations for NP_001258794.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1,2,3, and 4 encode the same protein.
    Source sequence(s)
    AA908205, AC098936, AI698122, AK096590, DA718283, DB055006
    Consensus CDS
    CCDS30985.1
    UniProtKB/Swiss-Prot
    Q8IYD2
    UniProtKB/TrEMBL
    A0A024R981
    Related
    ENSP00000442229.1, ENST00000539253.5
    Conserved Domains (2) summary
    sd00038
    Location:2165
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:5209
    BTB; Broad-Complex, Tramtrack and Bric a brac
  4. NM_018203.3NP_060673.1  kelch domain-containing protein 8A

    See identical proteins and their annotated locations for NP_060673.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1,2,3, and 4 encode the same protein.
    Source sequence(s)
    AA908205, AC098933, AI698122, AK096590, DA497063, DA776996
    Consensus CDS
    CCDS30985.1
    UniProtKB/Swiss-Prot
    Q8IYD2
    UniProtKB/TrEMBL
    A0A024R981
    Related
    ENSP00000356123.3, ENST00000367155.7
    Conserved Domains (2) summary
    sd00038
    Location:2165
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:5209
    BTB; Broad-Complex, Tramtrack and Bric a brac

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    205336061..205357090 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448121.1XP_024303889.1  kelch domain-containing protein 8A isoform X1

    Conserved Domains (2) summary
    sd00038
    Location:2165
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:5209
    BTB; Broad-Complex, Tramtrack and Bric a brac
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