Reviewed, UniProtKB/Swiss-Prot Q96KT7 (AMCL2_HUMAN)

Names and origin

Protein names

Recommended name:
    Protein AMAC1L2
Alternative name(s):
    Acyl-malonyl-condensing enzyme 1-like protein 2

Gene names

Name:	AMAC1L2
Synonyms:	AMAC

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	338 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	Expressed in placenta and testis. Ref.3
Miscellaneous	The gene encoding this protein appears to have arisen by SVA-mediated retrotransposition of the AMAC1L3 gene in the primate lineage.
Sequence similarities	Contains 2 DUF6 domains.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Repeat Transmembrane
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 338	338	Protein AMAC1L2		PRO_0000269556
Regions
	Transmembrane	37 – 57	21	Potential
	Transmembrane	67 – 87	21	Potential
	Transmembrane	102 – 122	21	Potential
	Transmembrane	160 – 180	21	Potential
	Transmembrane	190 – 210	21	Potential
	Transmembrane	221 – 241	21	Potential
	Transmembrane	250 – 270	21	Potential
	Transmembrane	281 – 301	21	Potential
	Transmembrane	305 – 325	21	Potential
	Domain	49 – 174	126	DUF6 1
	Domain	272 – 325	54	DUF6 2
Natural variations
	Natural variant	46	1	G → D: dbSNP rs6990563.		VAR_059579
	Natural variant	307	1	L → P: dbSNP rs12681991.		VAR_059580

Sequences

	Sequence		Length	Mass (Da)
	Q96KT7-1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 8421C9A5E1E48D35	FASTA	338	35,161
	10 20 30 40 50 60 MAGSHPYFNL PDSTHPSPPS APPSLRWHQR CQPSGATNGL LVALLGGGLP AGFVGPLSRM 70 80 90 100 110 120 AYQGSNLPSL ELLICRCLFH LPIALLLKLR GDPLLGPPDI RGWACFCALL NVLSIGCAYS 130 140 150 160 170 180 AVQVVPAGNA ATVRKGSSTV CSAVLTLCLE SQGLGGYEWC GLLGSILGLI IILGPGLWTL 190 200 210 220 230 240 QEGTTGVYTT LGYVQAFLGG LALSLGLLVY RSLHFPSCLP TVAFLSGLVG LLGCVPGLFV 250 260 270 280 290 300 LQTPVLPSDL LSWSCVGAEG ILALVSFTCV GYAVTKAHPA LVCAVLHSEV VVALILQYYM 310 320 330 LHETVALSDI MGAGVVLGSI AIITARNLSC ERTGKVEE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759." Appel S., Filter M., Reis A., Hennies H.C., Bergheim A., Ogilvie E., Arndt S., Simmons A., Lovett M., Hide W., Ramsay M., Reichwald K., Zimmermann W., Rosenthal A. Eur. J. Hum. Genet. 10:17-25(2002) [PubMed: 11896452] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"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].
[3]	"Emergence of primate genes by retrotransposon-mediated sequence transduction." Xing J., Wang H., Belancio V.P., Cordaux R., Deininger P.L., Batzer M.A. Proc. Natl. Acad. Sci. U.S.A. 103:17608-17613(2006) [PubMed: 17101974] [Abstract] Cited for: TISSUE SPECIFICITY, GENE EVOLUTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AJ291677 mRNA. Translation: CAC82744.1. BC131696 mRNA. Translation: AAI31697.1.
IPI	IPI00064799.
RefSeq	NP_473369.1.
UniGene	Hs.458397
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q96KT7.
Proteomic databases
PRIDE	Q96KT7.
Genome annotation databases
Ensembl	ENST00000382435; ENSP00000371872; ENSG00000177710; Homo sapiens. [Genome view]
GeneID	83650.
KEGG	hsa:83650.
UCSC	uc003wtp.1. human.
Organism-specific databases
CTD	83650.
GeneCards	GC08P011226.
HGNC	HGNC:15546. AMAC1L2.
PharmGKB	PA24756.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q96KT7.
OMA	WRERSEE
OrthoDB	EOG9KPWWP
Gene expression databases
CleanEx	HS_AMAC1L2.
Genevestigator	Q96KT7.
Family and domain databases
InterPro	IPR000620. DUF6_TM. [Graphical view]
Pfam	PF00892. DUF6. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	72611.

Entry information

Entry name

AMCL2_HUMAN

Accession

Primary (citable) accession number: Q96KT7
Secondary accession number(s): A2RRL6

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 12, 2006
Last sequence update:	December 1, 2001
Last modified:	November 24, 2009
This is version 39 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.