HDHD5_HUMAN
ID HDHD5_HUMAN Reviewed; 423 AA.
AC Q9BXW7; B2RCK5; Q9BXW8; Q9NWA8; Q9NX41;
DT 16-APR-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Haloacid dehalogenase-like hydrolase domain-containing 5 {ECO:0000312|HGNC:HGNC:1843};
DE AltName: Full=Cat eye syndrome critical region protein 5 {ECO:0000305};
DE Flags: Precursor;
GN Name=HDHD5 {ECO:0000312|HGNC:HGNC:1843};
GN Synonyms=CECR5 {ECO:0000312|HGNC:HGNC:1843};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RX PubMed=11381032; DOI=10.1101/gr.154901;
RA Footz T.K., Brinkman-Mills P., Banting G.S., Maier S.A., Riazi M.A.,
RA Bridgland L.J., Hu S., Birren B., Minoshima S., Shimizu N., Pan H.,
RA Nguyen T., Fang F., Fu Y., Ray L., Wu H., Shaull S., Phan S., Yao Z.,
RA Chen F., Huan A., Hu P., Wang Q., Loh P., Qi S., Roe B.A., McDermid H.E.;
RT "Analysis of the cat eye syndrome critical region in humans and the region
RT of conserved synteny in mice: a search for candidate genes at or near the
RT human chromosome 22 pericentromere.";
RL Genome Res. 11:1053-1070(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Embryo, Gastric carcinoma, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Lymph;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=2;
CC IsoId=Q9BXW7-1; Sequence=Displayed;
CC Name=1;
CC IsoId=Q9BXW7-2; Sequence=VSP_003840;
CC -!- TISSUE SPECIFICITY: Widely expressed.
CC -!- MISCELLANEOUS: Candidate gene for the Cat Eye Syndrome (CES), a
CC developmental disorder associated with the duplication of a 2 Mb region
CC of 22q11.2. Duplication usually takes in the form of a surpernumerary
CC bisatellited isodicentric chromosome, resulting in four copies of the
CC region (represents an inv dup(22)(q11)). CES is characterized
CC clinically by the combination of coloboma of the iris and anal atresia
CC with fistula, downslanting palpebral fissures, preauricular tags and/or
CC pits, frequent occurrence of heart and renal malformations, and normal
CC or near-normal mental development.
CC -!- SIMILARITY: Belongs to the HAD-like hydrolase superfamily.
CC {ECO:0000305}.
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DR EMBL; AF273271; AAK19152.1; -; mRNA.
DR EMBL; AF273270; AAK19151.1; -; mRNA.
DR EMBL; AK001034; BAA91475.1; -; mRNA.
DR EMBL; AK000461; BAA91180.1; -; mRNA.
DR EMBL; AK315156; BAG37602.1; -; mRNA.
DR EMBL; CH471193; EAW57748.1; -; Genomic_DNA.
DR EMBL; BC042540; AAH42540.1; -; mRNA.
DR CCDS; CCDS13741.1; -. [Q9BXW7-2]
DR CCDS; CCDS33595.1; -. [Q9BXW7-1]
DR RefSeq; NP_060299.4; NM_017829.5. [Q9BXW7-2]
DR RefSeq; NP_149061.1; NM_033070.2. [Q9BXW7-1]
DR AlphaFoldDB; Q9BXW7; -.
DR SMR; Q9BXW7; -.
DR BioGRID; 118173; 76.
DR IntAct; Q9BXW7; 16.
DR MINT; Q9BXW7; -.
DR STRING; 9606.ENSP00000337358; -.
DR DEPOD; HDHD5; -.
DR GlyGen; Q9BXW7; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BXW7; -.
DR PhosphoSitePlus; Q9BXW7; -.
DR BioMuta; HDHD5; -.
DR DMDM; 20177842; -.
DR EPD; Q9BXW7; -.
DR jPOST; Q9BXW7; -.
DR MassIVE; Q9BXW7; -.
DR MaxQB; Q9BXW7; -.
DR PaxDb; Q9BXW7; -.
DR PeptideAtlas; Q9BXW7; -.
DR PRIDE; Q9BXW7; -.
DR ProteomicsDB; 79529; -. [Q9BXW7-1]
DR ProteomicsDB; 79530; -. [Q9BXW7-2]
DR Antibodypedia; 257; 119 antibodies from 21 providers.
DR DNASU; 27440; -.
DR Ensembl; ENST00000155674.9; ENSP00000155674.5; ENSG00000069998.12. [Q9BXW7-2]
DR Ensembl; ENST00000336737.8; ENSP00000337358.4; ENSG00000069998.12. [Q9BXW7-1]
DR GeneID; 27440; -.
DR KEGG; hsa:27440; -.
DR MANE-Select; ENST00000336737.8; ENSP00000337358.4; NM_033070.3; NP_149061.1.
DR UCSC; uc002zmf.4; human. [Q9BXW7-1]
DR CTD; 27440; -.
DR DisGeNET; 27440; -.
DR GeneCards; HDHD5; -.
DR HGNC; HGNC:1843; HDHD5.
DR HPA; ENSG00000069998; Low tissue specificity.
DR neXtProt; NX_Q9BXW7; -.
DR OpenTargets; ENSG00000069998; -.
DR PharmGKB; PA26386; -.
DR VEuPathDB; HostDB:ENSG00000069998; -.
DR eggNOG; KOG1618; Eukaryota.
DR GeneTree; ENSGT00390000018051; -.
DR HOGENOM; CLU_030880_0_1_1; -.
DR InParanoid; Q9BXW7; -.
DR OMA; CTSILVC; -.
DR OrthoDB; 418243at2759; -.
DR PhylomeDB; Q9BXW7; -.
DR TreeFam; TF313681; -.
DR PathwayCommons; Q9BXW7; -.
DR SignaLink; Q9BXW7; -.
DR BioGRID-ORCS; 27440; 11 hits in 1070 CRISPR screens.
DR ChiTaRS; HDHD5; human.
DR GenomeRNAi; 27440; -.
DR Pharos; Q9BXW7; Tdark.
DR PRO; PR:Q9BXW7; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q9BXW7; protein.
DR Bgee; ENSG00000069998; Expressed in apex of heart and 197 other tissues.
DR ExpressionAtlas; Q9BXW7; baseline and differential.
DR Genevisible; Q9BXW7; HS.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0046474; P:glycerophospholipid biosynthetic process; IBA:GO_Central.
DR Gene3D; 3.40.50.1000; -; 2.
DR InterPro; IPR029621; CECR5.
DR InterPro; IPR036412; HAD-like_sf.
DR InterPro; IPR006357; HAD-SF_hydro_IIA.
DR InterPro; IPR006353; HAD-SF_hydro_IIA_CECR5.
DR InterPro; IPR023214; HAD_sf.
DR PANTHER; PTHR14269:SF17; PTHR14269:SF17; 1.
DR Pfam; PF13344; Hydrolase_6; 1.
DR SUPFAM; SSF56784; SSF56784; 1.
DR TIGRFAMs; TIGR01456; CECR5; 1.
DR TIGRFAMs; TIGR01460; HAD-SF-IIA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome; Signal.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..423
FT /note="Haloacid dehalogenase-like hydrolase domain-
FT containing 5"
FT /id="PRO_0000020920"
FT VAR_SEQ 1..41
FT /note="MAAWGCVAALGAARGLCWRAARAAAGLQGRPARRCYAVGPA -> MYAWFFL
FT PSFS (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:11381032"
FT /id="VSP_003840"
FT VARIANT 179
FT /note="T -> M (in dbSNP:rs35665085)"
FT /id="VAR_050790"
FT VARIANT 369
FT /note="R -> S (in dbSNP:rs16982020)"
FT /id="VAR_033674"
FT VARIANT 416
FT /note="R -> C (in dbSNP:rs35327402)"
FT /id="VAR_050791"
FT CONFLICT 54
FT /note="D -> N (in Ref. 2; BAA91180)"
FT /evidence="ECO:0000305"
FT CONFLICT 86
FT /note="V -> F (in Ref. 2; BAA91475)"
FT /evidence="ECO:0000305"
FT CONFLICT 297
FT /note="E -> G (in Ref. 2; BAA91475)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 423 AA; 46321 MW; C4D9208AB8B88CCE CRC64;
MAAWGCVAAL GAARGLCWRA ARAAAGLQGR PARRCYAVGP AQSPPTFGFL LDIDGVLVRG
HRVIPAALKA FRRLVNSQGQ LRVPVVFVTN AGNILQHSKA QELSALLGCE VDADQVILSH
SPMKLFSEYH EKRMLVSGQG PVMENAQGLG FRNVVTVDEL RMAFPLLDMV DLERRLKTTP
LPRNDFPRIE GVLLLGEPVR WETSLQLIMD VLLSNGSPGA GLATPPYPHL PVLASNMDLL
WMAEAKMPRF GHGTFLLCLE TIYQKVTGKE LRYEGLMGKP SILTYQYAED LIRRQAERRG
WAAPIRKLYA VGDNPMSDVY GANLFHQYLQ KATHDGAPEL GAGGTRQQQP SASQSCISIL
VCTGVYNPRN PQSTEPVLGG GEPPFHGHRD LCFSPGLMEA SHVVNDVNEA VQLVFRKEGW
ALE
