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KLHDC4 kelch domain containing 4 [ Homo sapiens (human) ]

Gene ID: 54758, updated on 21-Dec-2019

Summary

Official Symbol
KLHDC4provided by HGNC
Official Full Name
kelch domain containing 4provided by HGNC
Primary source
HGNC:HGNC:25272
See related
Ensembl:ENSG00000104731
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
Expression
Ubiquitous expression in testis (RPKM 2.9), lymph node (RPKM 1.9) and 25 other tissues See more
Orthologs

Genomic context

See KLHDC4 in Genome Data Viewer
Location:
16q24.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (87693537..87765991, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (87730239..87799603, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene junctophilin 3 repeat instability region Neighboring gene junctophilin 3 Neighboring gene Sharpr-MPRA regulatory region 988 Neighboring gene uncharacterized LOC100129215 Neighboring gene uncharacterized LOC105371399 Neighboring gene uncharacterized LOC102724467 Neighboring gene solute carrier family 7 member 5 Neighboring gene microRNA 6775

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

  • FLJ00104, FLJ35576, FLJ45755, DKFZp434G0522

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 4

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_001184854.2NP_001171783.1  kelch domain-containing protein 4 isoform 3

    See identical proteins and their annotated locations for NP_001171783.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons in the coding region and uses an alternate splice site in the 3' UTR compared to variant 1. The resulting protein (isoform 3) is shorter but has the same N- and C-terminus compared to isoform 1.
    Source sequence(s)
    BC001044, BC022969, BP215584
    Consensus CDS
    CCDS54050.1
    UniProtKB/Swiss-Prot
    Q8TBB5
    Related
    ENSP00000262530.5, ENST00000353170.9
    Conserved Domains (3) summary
    sd00038
    Location:62117
    Kelch; KELCH repeat [structural motif]
    pfam13415
    Location:129181
    Kelch_3; Galactose oxidase, central domain
    pfam13418
    Location:173229
    Kelch_4; Galactose oxidase, central domain
  2. NM_001184856.2NP_001171785.1  kelch domain-containing protein 4 isoform 2

    See identical proteins and their annotated locations for NP_001171785.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-terminus compared to isoform 1.
    Source sequence(s)
    BC011680, BP215584
    Consensus CDS
    CCDS54051.1
    UniProtKB/Swiss-Prot
    Q8TBB5
    Related
    ENSP00000325717.5, ENST00000347925.9
    Conserved Domains (4) summary
    sd00038
    Location:64115
    Kelch; KELCH repeat [structural motif]
    pfam13415
    Location:75127
    Kelch_3; Galactose oxidase, central domain
    pfam13418
    Location:199255
    Kelch_4; Galactose oxidase, central domain
    pfam13964
    Location:119168
    Kelch_6; Kelch motif
  3. NM_001351937.2NP_001338866.1  kelch domain-containing protein 4 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC010536, BC022969, KF456219
    Conserved Domains (2) summary
    sd00038
    Location:143
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:1132
    PLN02193; nitrile-specifier protein
  4. NM_001351938.2NP_001338867.1  kelch domain-containing protein 4 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC010536, BC022969, KF456219
    Conserved Domains (2) summary
    sd00038
    Location:143
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:1132
    PLN02193; nitrile-specifier protein
  5. NM_017566.4NP_060036.2  kelch domain-containing protein 4 isoform 1

    See identical proteins and their annotated locations for NP_060036.2

    Status: VALIDATED

    Description
    Transcript Variant: Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC022969, BP215584
    Consensus CDS
    CCDS10963.1
    UniProtKB/Swiss-Prot
    Q8TBB5
    Related
    ENSP00000270583.4, ENST00000270583.10
    Conserved Domains (2) summary
    sd00038
    Location:64115
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:77313
    PLN02193; nitrile-specifier protein

RNA

  1. NR_147833.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC010536, BC022969, KF456219
    Related
    ENST00000562155.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    87693537..87765991 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721204.4XP_006721267.1  kelch domain-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_006721267.1

    Conserved Domains (2) summary
    sd00038
    Location:64115
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:77319
    PLN02193; nitrile-specifier protein
  2. XM_024450317.1XP_024306085.1  kelch domain-containing protein 4 isoform X1

    Conserved Domains (2) summary
    sd00038
    Location:64115
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:77319
    PLN02193; nitrile-specifier protein
  3. XM_017023344.2XP_016878833.1  kelch domain-containing protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q8TBB5
    Related
    ENSP00000457570.1, ENST00000567298.5
    Conserved Domains (2) summary
    sd00038
    Location:64115
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:77313
    PLN02193; nitrile-specifier protein
  4. XM_006721203.3XP_006721266.1  kelch domain-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_006721266.1

    Conserved Domains (2) summary
    sd00038
    Location:64115
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:77319
    PLN02193; nitrile-specifier protein
  5. XM_005255994.4XP_005256051.1  kelch domain-containing protein 4 isoform X2

    See identical proteins and their annotated locations for XP_005256051.1

    UniProtKB/Swiss-Prot
    Q8TBB5
    Conserved Domains (2) summary
    sd00038
    Location:64115
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:77313
    PLN02193; nitrile-specifier protein
  6. XM_006721202.2XP_006721265.1  kelch domain-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_006721265.1

    Conserved Domains (2) summary
    sd00038
    Location:64115
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:77319
    PLN02193; nitrile-specifier protein
  7. XM_006721201.2XP_006721264.1  kelch domain-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_006721264.1

    Conserved Domains (2) summary
    sd00038
    Location:64115
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:77319
    PLN02193; nitrile-specifier protein
  8. XM_024450318.1XP_024306086.1  kelch domain-containing protein 4 isoform X3

    Conserved Domains (2) summary
    sd00038
    Location:143
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:1132
    PLN02193; nitrile-specifier protein

RNA

  1. XR_002957826.1 RNA Sequence

  2. XR_001751939.1 RNA Sequence

  3. XR_001751930.2 RNA Sequence

  4. XR_001751927.2 RNA Sequence

  5. XR_001751926.2 RNA Sequence

  6. XR_429719.3 RNA Sequence

  7. XR_001751929.2 RNA Sequence

  8. XR_001751933.2 RNA Sequence

  9. XR_001751938.1 RNA Sequence

  10. XR_001751942.1 RNA Sequence

  11. XR_001751941.1 RNA Sequence

  12. XR_001751940.1 RNA Sequence

  13. XR_001751935.1 RNA Sequence

  14. XR_001751936.1 RNA Sequence

  15. XR_001751937.1 RNA Sequence

  16. XR_001751944.2 RNA Sequence

  17. XR_002957825.1 RNA Sequence

  18. XR_001751943.1 RNA Sequence

  19. XR_933341.3 RNA Sequence

  20. XR_001751928.2 RNA Sequence

  21. XR_933342.3 RNA Sequence

  22. XR_001751932.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_024488.1: Suppressed sequence

    Description
    NR_024488.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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