Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Haloacid dehalogenase-like hydrolase domain-containing 5

Gene

HDHD5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Miscellaneous

Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

GO - Biological processi

  • glycerophospholipid biosynthetic process Source: GO_Central

Names & Taxonomyi

Protein namesi
Recommended name:
Haloacid dehalogenase-like hydrolase domain-containing 5Imported
Alternative name(s):
Cat eye syndrome critical region protein 5Curated
Gene namesi
Name:HDHD5Imported
Synonyms:CECR5Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000069998.12
HGNCiHGNC:1843 HDHD5
neXtProtiNX_Q9BXW7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000069998
PharmGKBiPA26386

Polymorphism and mutation databases

BioMutaiCECR5
DMDMi20177842

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000002092024 – 423Haloacid dehalogenase-like hydrolase domain-containing 5Add BLAST400

Proteomic databases

EPDiQ9BXW7
MaxQBiQ9BXW7
PaxDbiQ9BXW7
PeptideAtlasiQ9BXW7
PRIDEiQ9BXW7
ProteomicsDBi79529
79530 [Q9BXW7-2]

PTM databases

iPTMnetiQ9BXW7
PhosphoSitePlusiQ9BXW7

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiENSG00000069998 Expressed in 216 organ(s), highest expression level in apex of heart
CleanExiHS_CECR5
ExpressionAtlasiQ9BXW7 baseline and differential
GenevisibleiQ9BXW7 HS

Organism-specific databases

HPAiHPA005548

Interactioni

Protein-protein interaction databases

BioGridi118173, 17 interactors
IntActiQ9BXW7, 9 interactors
STRINGi9606.ENSP00000337358

Structurei

3D structure databases

ProteinModelPortaliQ9BXW7
SMRiQ9BXW7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the HAD-like hydrolase superfamily.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG1618 Eukaryota
COG0647 LUCA
GeneTreeiENSGT00390000018051
HOGENOMiHOG000184412
HOVERGENiHBG050885
InParanoidiQ9BXW7
OMAiHRDFSFS
OrthoDBiEOG091G0FAQ
PhylomeDBiQ9BXW7
TreeFamiTF313681

Family and domain databases

Gene3Di3.40.50.1000, 2 hits
InterProiView protein in InterPro
IPR029621 CECR5
IPR036412 HAD-like_sf
IPR006357 HAD-SF_hydro_IIA
IPR006353 HAD-SF_hydro_IIA_CECR5
IPR023214 HAD_sf
PANTHERiPTHR14269:SF17 PTHR14269:SF17, 1 hit
PfamiView protein in Pfam
PF13344 Hydrolase_6, 1 hit
SUPFAMiSSF56784 SSF56784, 1 hit
TIGRFAMsiTIGR01456 CECR5, 1 hit
TIGR01460 HAD-SF-IIA, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 2 (identifier: Q9BXW7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAWGCVAAL GAARGLCWRA ARAAAGLQGR PARRCYAVGP AQSPPTFGFL
60 70 80 90 100
LDIDGVLVRG HRVIPAALKA FRRLVNSQGQ LRVPVVFVTN AGNILQHSKA
110 120 130 140 150
QELSALLGCE VDADQVILSH SPMKLFSEYH EKRMLVSGQG PVMENAQGLG
160 170 180 190 200
FRNVVTVDEL RMAFPLLDMV DLERRLKTTP LPRNDFPRIE GVLLLGEPVR
210 220 230 240 250
WETSLQLIMD VLLSNGSPGA GLATPPYPHL PVLASNMDLL WMAEAKMPRF
260 270 280 290 300
GHGTFLLCLE TIYQKVTGKE LRYEGLMGKP SILTYQYAED LIRRQAERRG
310 320 330 340 350
WAAPIRKLYA VGDNPMSDVY GANLFHQYLQ KATHDGAPEL GAGGTRQQQP
360 370 380 390 400
SASQSCISIL VCTGVYNPRN PQSTEPVLGG GEPPFHGHRD LCFSPGLMEA
410 420
SHVVNDVNEA VQLVFRKEGW ALE
Length:423
Mass (Da):46,321
Last modified:June 1, 2001 - v1
Checksum:iC4D9208AB8B88CCE
GO
Isoform 1 (identifier: Q9BXW7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MAAWGCVAALGAARGLCWRAARAAAGLQGRPARRCYAVGPA → MYAWFFLPSFS

Show »
Length:393
Mass (Da):43,588
Checksum:iAC8CEC491FD7698B
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MYZ9A8MYZ9_HUMAN
Haloacid dehalogenase-like hydrolas...
HDHD5
223Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti54D → N in BAA91180 (PubMed:14702039).Curated1
Sequence conflicti86V → F in BAA91475 (PubMed:14702039).Curated1
Sequence conflicti297E → G in BAA91475 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050790179T → M. Corresponds to variant dbSNP:rs35665085Ensembl.1
Natural variantiVAR_033674369R → S. Corresponds to variant dbSNP:rs16982020Ensembl.1
Natural variantiVAR_050791416R → C. Corresponds to variant dbSNP:rs35327402Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0038401 – 41MAAWG…AVGPA → MYAWFFLPSFS in isoform 1. 1 PublicationAdd BLAST41

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF273271 mRNA Translation: AAK19152.1
AF273270 mRNA Translation: AAK19151.1
AK001034 mRNA Translation: BAA91475.1
AK000461 mRNA Translation: BAA91180.1
AK315156 mRNA Translation: BAG37602.1
CH471193 Genomic DNA Translation: EAW57748.1
BC042540 mRNA Translation: AAH42540.1
CCDSiCCDS13741.1 [Q9BXW7-2]
CCDS33595.1 [Q9BXW7-1]
RefSeqiNP_060299.4, NM_017829.5 [Q9BXW7-2]
NP_149061.1, NM_033070.2 [Q9BXW7-1]
UniGeneiHs.26890

Genome annotation databases

EnsembliENST00000155674; ENSP00000155674; ENSG00000069998 [Q9BXW7-2]
ENST00000336737; ENSP00000337358; ENSG00000069998 [Q9BXW7-1]
GeneIDi27440
KEGGihsa:27440
UCSCiuc002zmf.4 human [Q9BXW7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF273271 mRNA Translation: AAK19152.1
AF273270 mRNA Translation: AAK19151.1
AK001034 mRNA Translation: BAA91475.1
AK000461 mRNA Translation: BAA91180.1
AK315156 mRNA Translation: BAG37602.1
CH471193 Genomic DNA Translation: EAW57748.1
BC042540 mRNA Translation: AAH42540.1
CCDSiCCDS13741.1 [Q9BXW7-2]
CCDS33595.1 [Q9BXW7-1]
RefSeqiNP_060299.4, NM_017829.5 [Q9BXW7-2]
NP_149061.1, NM_033070.2 [Q9BXW7-1]
UniGeneiHs.26890

3D structure databases

ProteinModelPortaliQ9BXW7
SMRiQ9BXW7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118173, 17 interactors
IntActiQ9BXW7, 9 interactors
STRINGi9606.ENSP00000337358

PTM databases

iPTMnetiQ9BXW7
PhosphoSitePlusiQ9BXW7

Polymorphism and mutation databases

BioMutaiCECR5
DMDMi20177842

Proteomic databases

EPDiQ9BXW7
MaxQBiQ9BXW7
PaxDbiQ9BXW7
PeptideAtlasiQ9BXW7
PRIDEiQ9BXW7
ProteomicsDBi79529
79530 [Q9BXW7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000155674; ENSP00000155674; ENSG00000069998 [Q9BXW7-2]
ENST00000336737; ENSP00000337358; ENSG00000069998 [Q9BXW7-1]
GeneIDi27440
KEGGihsa:27440
UCSCiuc002zmf.4 human [Q9BXW7-1]

Organism-specific databases

CTDi27440
EuPathDBiHostDB:ENSG00000069998.12
GeneCardsiHDHD5
HGNCiHGNC:1843 HDHD5
HPAiHPA005548
neXtProtiNX_Q9BXW7
OpenTargetsiENSG00000069998
PharmGKBiPA26386
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1618 Eukaryota
COG0647 LUCA
GeneTreeiENSGT00390000018051
HOGENOMiHOG000184412
HOVERGENiHBG050885
InParanoidiQ9BXW7
OMAiHRDFSFS
OrthoDBiEOG091G0FAQ
PhylomeDBiQ9BXW7
TreeFamiTF313681

Miscellaneous databases

ChiTaRSiCECR5 human
GenomeRNAii27440
PROiPR:Q9BXW7

Gene expression databases

BgeeiENSG00000069998 Expressed in 216 organ(s), highest expression level in apex of heart
CleanExiHS_CECR5
ExpressionAtlasiQ9BXW7 baseline and differential
GenevisibleiQ9BXW7 HS

Family and domain databases

Gene3Di3.40.50.1000, 2 hits
InterProiView protein in InterPro
IPR029621 CECR5
IPR036412 HAD-like_sf
IPR006357 HAD-SF_hydro_IIA
IPR006353 HAD-SF_hydro_IIA_CECR5
IPR023214 HAD_sf
PANTHERiPTHR14269:SF17 PTHR14269:SF17, 1 hit
PfamiView protein in Pfam
PF13344 Hydrolase_6, 1 hit
SUPFAMiSSF56784 SSF56784, 1 hit
TIGRFAMsiTIGR01456 CECR5, 1 hit
TIGR01460 HAD-SF-IIA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHDHD5_HUMAN
AccessioniPrimary (citable) accession number: Q9BXW7
Secondary accession number(s): B2RCK5
, Q9BXW8, Q9NWA8, Q9NX41
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 137 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again