HHATL_HUMAN
ID HHATL_HUMAN Reviewed; 504 AA.
AC Q9HCP6; Q8TBG3; Q9ULP7;
DT 19-SEP-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Protein-cysteine N-palmitoyltransferase HHAT-like protein;
DE AltName: Full=Glycerol uptake/transporter homolog;
DE AltName: Full=Hedgehog acyltransferase-like protein;
GN Name=HHATL; Synonyms=C3orf3, GUP1, KIAA1173;
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], AND TISSUE SPECIFICITY.
RC TISSUE=Myocardium;
RX PubMed=11374908; DOI=10.1006/geno.2001.6527;
RA Soejima H., Kawamoto S., Akai J., Miyoshi O., Arai Y., Morohka T.,
RA Matsuo S., Niikawa N., Kimura A., Okubo K., Mukai T.;
RT "Isolation of novel heart-specific genes using the BodyMap database.";
RL Genomics 74:115-120(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 172-504.
RC TISSUE=Brain;
RX PubMed=10574461; DOI=10.1093/dnares/6.5.329;
RA Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.;
RT "Characterization of cDNA clones selected by the GeneMark analysis from
RT size-fractionated cDNA libraries from human brain.";
RL DNA Res. 6:329-336(1999).
CC -!- FUNCTION: Negatively regulates N-terminal palmitoylation of SHH by
CC HHAT/SKN. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with SHH. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9HCP6; Q86WK6: AMIGO1; NbExp=3; IntAct=EBI-5916693, EBI-19125216;
CC Q9HCP6; Q8WVX3-2: C4orf3; NbExp=3; IntAct=EBI-5916693, EBI-12003442;
CC Q9HCP6; Q8N5K1: CISD2; NbExp=3; IntAct=EBI-5916693, EBI-1045797;
CC Q9HCP6; Q7Z7G2: CPLX4; NbExp=3; IntAct=EBI-5916693, EBI-18013275;
CC Q9HCP6; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-5916693, EBI-781551;
CC Q9HCP6; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-5916693, EBI-18304435;
CC Q9HCP6; Q9Y680: FKBP7; NbExp=3; IntAct=EBI-5916693, EBI-3918971;
CC Q9HCP6; Q8TBE3: FNDC9; NbExp=3; IntAct=EBI-5916693, EBI-12142257;
CC Q9HCP6; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-5916693, EBI-13345167;
CC Q9HCP6; Q8TED1: GPX8; NbExp=3; IntAct=EBI-5916693, EBI-11721746;
CC Q9HCP6; Q7Z6M3: MILR1; NbExp=3; IntAct=EBI-5916693, EBI-18391669;
CC Q9HCP6; P15941-11: MUC1; NbExp=3; IntAct=EBI-5916693, EBI-17263240;
CC Q9HCP6; P15151: PVR; NbExp=3; IntAct=EBI-5916693, EBI-3919694;
CC Q9HCP6; Q96L08: SUSD3; NbExp=3; IntAct=EBI-5916693, EBI-18194029;
CC Q9HCP6; Q9Y320: TMX2; NbExp=3; IntAct=EBI-5916693, EBI-6447886;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250};
CC Multi-pass membrane protein {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Heart-specific. {ECO:0000269|PubMed:11374908}.
CC -!- SIMILARITY: Belongs to the membrane-bound acyltransferase family. HHAT
CC subfamily. {ECO:0000305}.
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DR EMBL; AB042554; BAB17758.1; -; mRNA.
DR EMBL; BC022529; AAH22529.1; -; mRNA.
DR EMBL; AB032999; BAA86487.1; -; mRNA.
DR CCDS; CCDS2704.1; -.
DR RefSeq; NP_065758.3; NM_020707.3.
DR RefSeq; XP_006713337.1; XM_006713274.2.
DR RefSeq; XP_016862425.1; XM_017006936.1.
DR AlphaFoldDB; Q9HCP6; -.
DR SMR; Q9HCP6; -.
DR BioGRID; 121537; 31.
DR IntAct; Q9HCP6; 19.
DR MINT; Q9HCP6; -.
DR STRING; 9606.ENSP00000405423; -.
DR PhosphoSitePlus; Q9HCP6; -.
DR BioMuta; HHATL; -.
DR DMDM; 23396970; -.
DR MassIVE; Q9HCP6; -.
DR PaxDb; Q9HCP6; -.
DR PeptideAtlas; Q9HCP6; -.
DR PRIDE; Q9HCP6; -.
DR ProteomicsDB; 81784; -.
DR Antibodypedia; 2917; 80 antibodies from 21 providers.
DR DNASU; 57467; -.
DR Ensembl; ENST00000310417.9; ENSP00000310621.5; ENSG00000010282.15.
DR Ensembl; ENST00000441594.6; ENSP00000405423.1; ENSG00000010282.15.
DR GeneID; 57467; -.
DR KEGG; hsa:57467; -.
DR MANE-Select; ENST00000441594.6; ENSP00000405423.1; NM_020707.4; NP_065758.3.
DR UCSC; uc003clw.3; human.
DR CTD; 57467; -.
DR GeneCards; HHATL; -.
DR HGNC; HGNC:13242; HHATL.
DR HPA; ENSG00000010282; Group enriched (brain, heart muscle, skeletal muscle, tongue).
DR MIM; 608116; gene.
DR neXtProt; NX_Q9HCP6; -.
DR OpenTargets; ENSG00000010282; -.
DR PharmGKB; PA162390892; -.
DR VEuPathDB; HostDB:ENSG00000010282; -.
DR eggNOG; KOG3860; Eukaryota.
DR GeneTree; ENSGT00530000063629; -.
DR HOGENOM; CLU_027533_0_0_1; -.
DR InParanoid; Q9HCP6; -.
DR OMA; MTVPQHR; -.
DR OrthoDB; 392243at2759; -.
DR PhylomeDB; Q9HCP6; -.
DR TreeFam; TF315826; -.
DR PathwayCommons; Q9HCP6; -.
DR SignaLink; Q9HCP6; -.
DR BioGRID-ORCS; 57467; 8 hits in 1064 CRISPR screens.
DR ChiTaRS; HHATL; human.
DR GenomeRNAi; 57467; -.
DR Pharos; Q9HCP6; Tbio.
DR PRO; PR:Q9HCP6; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9HCP6; protein.
DR Bgee; ENSG00000010282; Expressed in left ventricle myocardium and 135 other tissues.
DR ExpressionAtlas; Q9HCP6; baseline and differential.
DR Genevisible; Q9HCP6; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; ISS:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
DR GO; GO:0016746; F:acyltransferase activity; IBA:GO_Central.
DR GO; GO:0060262; P:negative regulation of N-terminal protein palmitoylation; ISS:UniProtKB.
DR InterPro; IPR032980; HHAT-like.
DR InterPro; IPR004299; MBOAT_fam.
DR PANTHER; PTHR13285:SF19; PTHR13285:SF19; 1.
DR Pfam; PF03062; MBOAT; 1.
PE 1: Evidence at protein level;
KW Endoplasmic reticulum; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..504
FT /note="Protein-cysteine N-palmitoyltransferase HHAT-like
FT protein"
FT /id="PRO_0000213130"
FT TRANSMEM 12..31
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 65..87
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 100..122
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 127..149
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 251..273
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 288..310
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 429..446
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 461..483
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 403
FT /note="M -> V (in dbSNP:rs11079)"
FT /id="VAR_014947"
FT CONFLICT 188
FT /note="T -> A (in Ref. 2; AAH22529)"
FT /evidence="ECO:0000305"
FT CONFLICT 335
FT /note="A -> T (in Ref. 2; AAH22529)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 504 AA; 56703 MW; 91B7D9D7D55D42BB CRC64;
MGIKTALPAA ELGLYSLVLS GALAYAGRGL LEASQDGAHR KAFRESVRPG WEYIGRKMDV
ADFEWVMWFT SFRNVIIFAL SGHVLFAKLC TMVAPKLRSW MYAVYGALAV MGTMGPWYLL
LLLGHCVGLY VASLLGQPWL CLGLGLASLA SFKMDPLISW QSGFVTGTFD LQEVLFHGGS
SFTVLRCTSF ALESCAHPDR HYSLADLLKY NFYLPFFFFG PIMTFDRFHA QVSQVEPVRR
EGELWHIRAQ AGLSVVAIMA VDIFFHFFYI LTIPSDLKFA NRLPDSALAG LAYSNLVYDW
VKAAVLFGVV NTVACLDHLD PPQPPKCITA LYVFAETHFD RGINDWLCKY VYNHIGGEHS
AVIPELAATV ATFAITTLWL GPCDIVYLWS FLNCFGLNFE LWMQKLAEWG PLARIEASLS
VQMSRRVRAL FGAMNFWAII MYNLVSLNSL KFTELVARRL LLTGFPQTTL SILFVTYCGV
QLVKERERTL ALEEEQKQDK EKPE
