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HDHD5 haloacid dehalogenase like hydrolase domain containing 5 [ Homo sapiens (human) ]

Gene ID: 27440, updated on 7-Jun-2020

Summary

Official Symbol
HDHD5provided by HGNC
Official Full Name
haloacid dehalogenase like hydrolase domain containing 5provided by HGNC
Primary source
HGNC:HGNC:1843
See related
Ensembl:ENSG00000069998
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
Also known as
CECR5
Expression
Ubiquitous expression in duodenum (RPKM 7.4), heart (RPKM 7.2) and 25 other tissues See more
Orthologs

Genomic context

See HDHD5 in Genome Data Viewer
Location:
22q11.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (17137520..17165287, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17618410..17646177, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 121B Neighboring gene long intergenic non-protein coding RNA 1664 Neighboring gene HDHD5 antisense RNA 1 Neighboring gene adenosine deaminase 2 Neighboring gene uncharacterized LOC107985573 Neighboring gene ribosomal protein L32 pseudogene 5

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

Gene Ontology Provided by GOA

Process Evidence Code Pubs
glycerophospholipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
haloacid dehalogenase-like hydrolase domain-containing 5
Names
cat eye syndrome chromosome region, candidate 5
cat eye syndrome critical region protein 5

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_017829.5NP_060299.4  haloacid dehalogenase-like hydrolase domain-containing 5 isoform 1

    See identical proteins and their annotated locations for NP_060299.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AF273270, BF515203
    Consensus CDS
    CCDS13741.1
    UniProtKB/Swiss-Prot
    Q9BXW7
    Related
    ENSP00000155674.5, ENST00000155674.9
    Conserved Domains (2) summary
    TIGR01456
    Location:17330
    CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
    pfam13344
    Location:19122
    Hydrolase_6; Haloacid dehalogenase-like hydrolase
  2. NM_033070.3NP_149061.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform 2 precursor

    See identical proteins and their annotated locations for NP_149061.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate first exon compared to variant 1. The resulting isoform (2) is longer and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AF273271, AK000461, BF515203, BM558767
    Consensus CDS
    CCDS33595.1
    UniProtKB/Swiss-Prot
    Q9BXW7
    Related
    ENSP00000337358.4, ENST00000336737.8
    Conserved Domains (2) summary
    TIGR01456
    Location:47360
    CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
    pfam13344
    Location:49152
    Hydrolase_6; Haloacid dehalogenase-like hydrolase

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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    17137520..17165287 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011546127.1XP_011544429.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X2

    Conserved Domains (1) summary
    TIGR01456
    Location:1238
    CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
  2. XM_024452233.1XP_024308001.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X5

    Conserved Domains (1) summary
    TIGR01456
    Location:2171
    CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
  3. XM_011546126.3XP_011544428.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X1

    Conserved Domains (2) summary
    TIGR01456
    Location:42292
    CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
    cl21460
    Location:4384
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  4. XM_005261236.4XP_005261293.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X4

    Conserved Domains (1) summary
    TIGR01456
    Location:1199
    CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
  5. XM_017028784.2XP_016884273.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X5

    Conserved Domains (1) summary
    TIGR01456
    Location:2171
    CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
  6. XM_017028783.2XP_016884272.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X5

    Conserved Domains (1) summary
    TIGR01456
    Location:2171
    CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
  7. XM_017028781.2XP_016884270.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X4

    Conserved Domains (1) summary
    TIGR01456
    Location:1199
    CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
  8. XM_024452232.1XP_024308000.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X3

    Conserved Domains (1) summary
    TIGR01456
    Location:53224
    CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5

RNA

  1. XR_002958689.1 RNA Sequence

  2. XR_002958690.1 RNA Sequence

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