B0YJ81 (HACD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
3-hydroxyacyl-CoA dehydratase 1
Short name=HACD1
EC=4.2.1.-

Alternative name(s):
Cementum attachment protein
Protein-tyrosine phosphatase-like member A

Gene names

Name:	PTPLA
Synonyms:	HACD1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	288 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Responsible for the dehydration step in very long-chain fatty acids (VLCFAs) synthesis. Ref.7
Subunit structure	Interact with the condensation enzymes of the ELOVL family.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.7.
Tissue specificity	Highly expressed in the myocardium, and to a lesser extent in skeletal and smooth muscular tissues including those from stomach, jejunum, and bladder. Ref.1 Ref.7
Developmental stage	Expressed in fetal heart.
Sequence similarities	Belongs to the very long-chain fatty acids dehydratase HACD family.
Caution	Shares some similarity with tyrosine phosphatase proteins but it has probably no phosphatase activity.
Sequence caution	The sequence AAG10713.1 differs from that shown. Reason: Erroneous initiation. The sequence ACA06059.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Fatty acid biosynthesis Lipid synthesis
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Developmental protein Lyase
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	fatty acid biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Traceable author statement. Source: ProtInc signal transduction Non-traceable author statement. Source: ProtInc
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	lyase activity Inferred from electronic annotation. Source: UniProtKB-KW protein tyrosine phosphatase activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: B0YJ81-1)

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.

Isoform 2 (identifier: B0YJ81-2)

The sequence of this isoform differs from the canonical sequence as follows:
     126-140: IVHCLIGIVPTSVIV → VSFPSCCFSIAVIFM
     141-288: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 288	288	3-hydroxyacyl-CoA dehydratase 1		PRO_0000349315
Regions
	Topological domain	1 – 75	75	Cytoplasmic Potential
	Transmembrane	76 – 95	20	Helical; Potential
	Topological domain	96 – 114	19	Lumenal Potential
	Transmembrane	115 – 131	17	Helical; Potential
	Topological domain	132 – 141	10	Cytoplasmic Potential
	Transmembrane	142 – 159	18	Helical; Potential
	Topological domain	160 – 165	6	Lumenal Potential
	Transmembrane	166 – 180	15	Helical; Potential
	Topological domain	181 – 203	23	Cytoplasmic Potential
	Transmembrane	204 – 221	18	Helical; Potential
	Topological domain	222 – 251	30	Lumenal Potential
	Transmembrane	252 – 269	18	Helical; Potential
	Topological domain	270 – 288	19	Cytoplasmic Potential
Sites
	Active site	210	1	By similarity
	Active site	217	1	By similarity
Amino acid modifications
	Modified residue	22	1	Phosphoserine Ref.8
	Modified residue	30	1	Phosphoserine Ref.8
	Modified residue	32	1	Phosphothreonine Ref.8
	Glycosylation	243	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	126 – 140	15	IVHCL…TSVIV → VSFPSCCFSIAVIFM in isoform 2.		VSP_035363
	Alternative sequence	141 – 288	148	Missing in isoform 2.		VSP_035364
	Natural variant	64	1	E → K. Ref.1 Ref.2 Ref.5 Corresponds to variant rs7895850 [ dbSNP | Ensembl ].		VAR_046366
	Natural variant	64	1	E → Q. Ref.1		VAR_046367
	Natural variant	70	1	V → F. Ref.1 Ref.5 Corresponds to variant rs11254692 [ dbSNP | Ensembl ].		VAR_046368
	Natural variant	227	1	H → Y. Ref.1 Ref.2 Corresponds to variant rs1053926 [ dbSNP | Ensembl ].		VAR_046369
Experimental info
	Sequence conflict	80	1	D → N in AAF21976. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 8, 2008. Version 1. Checksum: 1CB64F23C3907F6E	FASTA	288	32,388
	10 20 30 40 50 60 MGRLTEAAAA GSGSRAAGWA GSPPTLLPLS PTSPRCAATM ASSDEDGTNG GASEAGEDRE 70 80 90 100 110 120 APGERRRLGV LATAWLTFYD IAMTAGWLVL AIAMVRFYME KGTHRGLYKS IQKTLKFFQT 130 140 150 160 170 180 FALLEIVHCL IGIVPTSVIV TGVQVSSRIF MVWLITHSIK PIQNEESVVL FLVAWTVTEI 190 200 210 220 230 240 TRYSFYTFSL LDHLPYFIKW ARYNFFIILY PVGVAGELLT IYAALPHVKK TGMFSIRLPN 250 260 270 280 KYNVSFDYYY FLLITMASYI PLFPQLYFHM LRQRRKVLHG EVIVEKDD
	Isoform 2 [UniParc]. Checksum: 21870B3D77BD5ECE	FASTA	140	14,920
	10 20 30 40 50 60 MGRLTEAAAA GSGSRAAGWA GSPPTLLPLS PTSPRCAATM ASSDEDGTNG GASEAGEDRE 70 80 90 100 110 120 APGERRRLGV LATAWLTFYD IAMTAGWLVL AIAMVRFYME KGTHRGLYKS IQKTLKFFQT 130 140 FALLEVSFPS CCFSIAVIFM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human protein tyrosine phosphatase-like gene: expression profile, genomic structure, and mutation analysis in families with ARVD." Li D., Gonzalez O., Bachinski L.L., Roberts R. Gene 256:237-243(2000) [PubMed: 11054553] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LYS-64; GLN-64; PHE-70 AND TYR-227, TISSUE SPECIFICITY.
[2]	"Molecular cloning, chromosomal mapping, and developmental expression of a novel protein tyrosine phosphatase-like gene." Uwanogho D.A., Hardcastle Z., Balogh P., Mirza G., Thornburg K.L., Ragoussis J., Sharpe P.T. Genomics 62:406-416(1999) [PubMed: 10644438] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS LYS-64 AND TYR-227.
[3]	"Cementum attachment protein." Arzate H., Bostrom A.G., Rose T.M., Narayanan A.S. Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[4]	NHLBI resequencing and genotyping service (RS&G) Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS LYS-64 AND PHE-70. Tissue: Skeletal muscle.
[6]	"Full-length cDNA libraries and normalization." Li W.B., Gruber C., Jessee J., Polayes D. Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-288 (ISOFORM 1).
[7]	"Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases involved in very long-chain fatty acid synthesis." Ikeda M., Kanao Y., Yamanaka M., Sakuraba H., Mizutani Y., Igarashi Y., Kihara A. FEBS Lett. 582:2435-2440(2008) [PubMed: 18554506] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY, TISSUE SPECIFICITY, INTERACTION WITH ELOVL FAMILY.
[8]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22; SER-30 AND THR-32, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF266852 , AF266848, AF266849, AF266850, AF266851 Genomic DNA. Translation: AAG10713.1. Different initiation. AF114494 mRNA. Translation: AAF21976.1. AY455942 mRNA. Translation: AAR22554.1. BC010353 mRNA. Translation: AAH10353.1. EF445016 Genomic DNA. Translation: ACA06060.1. EF445016 Genomic DNA. Translation: ACA06061.1. EF445016 Genomic DNA. Translation: ACA06059.1. Different initiation. CR608689 mRNA. No translation available.
IPI	IPI00307235. IPI00426084.
RefSeq	NP_055056.3. NM_014241.3.
UniGene	Hs.114062.
3D structure databases
ProteinModelPortal	B0YJ81.
ModBase	Search...
Protein-protein interaction databases
STRING	B0YJ81.
Proteomic databases
PRIDE	B0YJ81.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000361271; ENSP00000355308; ENSG00000165996.
GeneID	9200.
KEGG	hsa:9200.
UCSC	uc001ipg.1. human.
Organism-specific databases
CTD	9200.
GeneCards	GC10M017672.
HGNC	HGNC:9639. PTPLA.
neXtProt	NX_B0YJ81.
PharmGKB	PA33982.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19859.
GeneTree	ENSGT00530000062962.
HOGENOM	HBG736553.
HOVERGEN	HBG057518.
InParanoid	B0YJ81.
OMA	EEDGTNG.
OrthoDB	EOG41NTMQ.
PhylomeDB	B0YJ81.
Gene expression databases
Bgee	B0YJ81.
CleanEx	HS_PTPLA.
Genevestigator	B0YJ81.
Family and domain databases
InterPro	IPR007482. Tyr_Pase-like_PTPLA. [Graphical view]
KO	K10703.
PANTHER	PTHR11035. PTPLA. 1 hit.
Pfam	PF04387. PTPLA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	34485.

Entry information

Entry name

HACD1_HUMAN

Accession

Primary (citable) accession number: B0YJ81
Secondary accession number(s): B0YJ80 , Q6JIC5, Q96FW7, Q9HB93, Q9UHX2

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 2, 2008
Last sequence update:	April 8, 2008
Last modified:	January 25, 2012
This is version 35 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.