Q8BMT9 (HHAT_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein-cysteine N-palmitoyltransferase HHAT
EC=2.3.1.-

Alternative name(s):
Hedgehog acyltransferase
Skinny hedgehog protein

Gene names

Name:	Hhat
Synonyms:	Skn

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	499 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling during limb development. May bind GTP. Ref.4
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.4 Ref.5.
Developmental stage	Broadly expressed from E7. At E10.5, strongly expressed in anterior ectoderm, pharyngeal arches, and distal part of the limb. Ref.4
Disruption phenotype	Mice are characterized by a smaller size and holoprosencephaly at E10.5, shortening of limbs at E13.5, and severe short-limb dwarfism at birth. They die soon after birth. Ref.4
Sequence similarities	Belongs to the membrane-bound acyltransferase family. HHAT subfamily.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Ligand	GTP-binding Nucleotide-binding
Molecular function	Acyltransferase Developmental protein Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW protein palmitoylation Inferred from mutant phenotype Ref.4. Source: MGI smoothened signaling pathway Inferred from mutant phenotype Ref.4. Source: MGI
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	GTP binding Inferred from electronic annotation. Source: UniProtKB-KW palmitoyltransferase activity Inferred from mutant phenotype Ref.4. Source: MGI
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q8BMT9-1)

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: Q8BMT9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     470-473: GWPW → AAFR
     474-499: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 499	499	Protein-cysteine N-palmitoyltransferase HHAT		PRO_0000213135
Regions
	Transmembrane	2 – 22	21	Helical; Potential
	Transmembrane	71 – 88	18	Helical; Potential
	Transmembrane	95 – 115	21	Helical; Potential
	Transmembrane	123 – 143	21	Helical; Potential
	Transmembrane	208 – 228	21	Helical; Potential
	Transmembrane	257 – 277	21	Helical; Potential
	Transmembrane	296 – 316	21	Helical; Potential
	Transmembrane	366 – 386	21	Helical; Potential
	Transmembrane	436 – 456	21	Helical; Potential
	Transmembrane	466 – 486	21	Helical; Potential
	Region	454 – 461	8	GTP-binding By similarity
Sites
	Active site	385	1	Potential
Natural variations
	Alternative sequence	470 – 473	4	GWPW → AAFR in isoform 2.		VSP_016690
	Alternative sequence	474 – 499	26	Missing in isoform 2.		VSP_016691
Experimental info
	Sequence conflict	489	1	D → G in BAE42837. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: 37A3B98D607CE06C	FASTA	499	57,864
	10 20 30 40 50 60 MLPGWELTLC LLVSLGFHFR SFYEVYKVSR EHEEELDQEF ELEMDTLFGG LKKDPTDFEW 70 80 90 100 110 120 NFWMEWGKRR LVWLFIGHMA VSQLATLLTK KHRPWIVMVY GMWACWCVLG APGVVMVLLH 130 140 150 160 170 180 STIAFCVAQF RSVLLSWLCS LLLLSTLRLQ SVEEVKRRWY KTENEYYLLQ FTLTVRCLYY 190 200 210 220 230 240 TSFSLELCRQ PPSAQPTPSA QGASHSYPWL LTYVFYYPVF HNGPILNFPE FFRQMQQPEL 250 260 270 280 290 300 NSLQHSLCIV AKGLGRLLCW WWLAELMVHL MYMHALYSSA PLLESVSCWT LGGLALAQVL 310 320 330 340 350 360 FFYVKYLVLF GVPALLMRLD GLTPPPLPRC VSTMFSFTGM WRYFDVGLHN FLIRYVYIPL 370 380 390 400 410 420 GGSQHGLLGT LLSTATTFAF VSYWHGSYED LWCWAALNWL GVTVESGVRR LLETPCVRET 430 440 450 460 470 480 LARHLSPQAH HRLHALLAAC STSMLILFNL VFLGGIQVGK TYWNRIFLQG WPWVTLSVLG 490 FLYCYSHVDI AWAQTYTVL
	Isoform 2 [UniParc]. Checksum: 5157633CAE39270B	FASTA	473	54,837
	10 20 30 40 50 60 MLPGWELTLC LLVSLGFHFR SFYEVYKVSR EHEEELDQEF ELEMDTLFGG LKKDPTDFEW 70 80 90 100 110 120 NFWMEWGKRR LVWLFIGHMA VSQLATLLTK KHRPWIVMVY GMWACWCVLG APGVVMVLLH 130 140 150 160 170 180 STIAFCVAQF RSVLLSWLCS LLLLSTLRLQ SVEEVKRRWY KTENEYYLLQ FTLTVRCLYY 190 200 210 220 230 240 TSFSLELCRQ PPSAQPTPSA QGASHSYPWL LTYVFYYPVF HNGPILNFPE FFRQMQQPEL 250 260 270 280 290 300 NSLQHSLCIV AKGLGRLLCW WWLAELMVHL MYMHALYSSA PLLESVSCWT LGGLALAQVL 310 320 330 340 350 360 FFYVKYLVLF GVPALLMRLD GLTPPPLPRC VSTMFSFTGM WRYFDVGLHN FLIRYVYIPL 370 380 390 400 410 420 GGSQHGLLGT LLSTATTFAF VSYWHGSYED LWCWAALNWL GVTVESGVRR LLETPCVRET 430 440 450 460 470 LARHLSPQAH HRLHALLAAC STSMLILFNL VFLGGIQVGK TYWNRIFLQA AFR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed: 16141072] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Strain: C57BL/6J and NOD. Tissue: Embryo and Spleen.
[2]	"Lineage-specific biology revealed by a finished genome assembly of the mouse." Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P. PLoS Biol. 7:E1000112-E1000112(2009) [PubMed: 19468303] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Strain: C57BL/6.
[3]	"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 2). Strain: FVB/N. Tissue: Mammary gland.
[4]	"Palmitoylation is required for the production of a soluble multimeric Hedgehog protein complex and long-range signaling in vertebrates." Chen M.-H., Li Y.-J., Kawakami T., Xu S.-M., Chuang P.-T. Genes Dev. 18:641-659(2004) [PubMed: 15075292] [Abstract] Cited for: FUNCTION, DEVELOPMENTAL STAGE, SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE.
[5]	"Mammalian Gup1, a homolog of Saccharomyces cerevisiae glycerol uptake/transporter 1, acts as a negative regulator for N-terminal palmitoylation of Sonic hedgehog." Abe Y., Kita Y., Niikura T. FEBS J. 275:318-331(2008) [PubMed: 18081866] [Abstract] Cited for: SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK028230 mRNA. Translation: BAC25829.1. AK172126 mRNA. Translation: BAE42837.1. AL365317, AC105325, AC115917 Genomic DNA. Translation: CAO82115.1. BC008159 mRNA. Translation: AAH08159.1.
IPI	IPI00223115. IPI00670095.
RefSeq	NP_659130.2. NM_144881.4.
UniGene	Mm.145857.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q8BMT9.
Proteomic databases
PRIDE	Q8BMT9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000044190; ENSMUSP00000046686; ENSMUSG00000037375.
GeneID	226861.
KEGG	mmu:226861.
UCSC	uc007edp.2. mouse.
Organism-specific databases
CTD	55733.
MGI	MGI:2444681. Hhat.
Phylogenomic databases
eggNOG	roNOG05629.
GeneTree	ENSGT00530000063629.
HOVERGEN	HBG106485.
InParanoid	Q8BMT9.
OMA	QMQQQEH.
OrthoDB	EOG41C6W6.
PhylomeDB	Q8BMT9.
Gene expression databases
ArrayExpress	Q8BMT9.
Bgee	Q8BMT9.
CleanEx	MM_HHAT.
Genevestigator	Q8BMT9.
GermOnline	ENSMUSG00000037375. Mus musculus.
Family and domain databases
InterPro	IPR004299. MBOAT_fam. [Graphical view]
Pfam	PF03062. MBOAT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	378383.
SOURCE	Search...

Entry information

Entry name

HHAT_MOUSE

Accession

Primary (citable) accession number: Q8BMT9
Secondary accession number(s): B1ANS0, Q3TA33, Q922G3

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 20, 2005
Last sequence update:	March 1, 2003
Last modified:	November 16, 2011
This is version 65 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program