Reviewed, UniProtKB/Swiss-Prot P0C7Q6 (AMCL3_HUMAN)

Names and origin

Protein names

Recommended name:
    Protein AMAC1L3
Alternative name(s):
    Acyl-malonyl-condensing enzyme 1-like protein 3
    Transmembrane protein 21B

Gene names

Name:	AMAC1L3
Synonyms:	TMEM21B

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.2
Miscellaneous	This gene appears to be the source locus of an SVA-mediated retrotransposition event that gave rise to AMAC1, AMAC1L1 and AMAC1L2 genes.
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 AMAC1L3		PRO_0000342676
Regions
	Transmembrane	40 – 60	21	Potential
	Transmembrane	67 – 87	21	Potential
	Transmembrane	105 – 125	21	Potential
	Transmembrane	160 – 180	21	Potential
	Transmembrane	190 – 210	21	Potential
	Transmembrane	221 – 241	21	Potential
	Transmembrane	255 – 275	21	Potential
	Transmembrane	281 – 301	21	Potential
	Transmembrane	310 – 330	21	Potential
	Domain	49 – 174	126	DUF6 1
	Domain	272 – 325	54	DUF6 2
Natural variations
	Natural variant	51	1	A → T: dbSNP rs3760422.		VAR_044335
	Natural variant	251	1	P → L: dbSNP rs4491591.		VAR_044336
	Natural variant	263	1	A → T: dbSNP rs7209977.		VAR_059581

Sequences

	Sequence		Length	Mass (Da)
	P0C7Q6-1 [UniParc]. Last modified July 1, 2008. Version 1. Checksum: 5E5E5D10245050C3	FASTA	338	35,103
	10 20 30 40 50 60 MAGSHPYLNP PDSTHPSPPS APPSLRWHQC CQPSDATNGL LVALLGGGLP AGFVGPLSHM 70 80 90 100 110 120 AYQASNLPSL ELLICRCLFH LPIALLLKLR GDPLLGPPDI RGRAYFYALL NVLSIGCAYS 130 140 150 160 170 180 AVQVVPAGNA ATVRKGSSTV CSAVLTLCLE SQGLSGYDWC GLLGSILGLI IIVGPGLWTL 190 200 210 220 230 240 QEGITGVYTA LGYGQAFVGG LALSLGLLVY RSLHFPSCLP TVAFLSGLVG LLGSVPGLFV 250 260 270 280 290 300 LQPPVLPSDL PSWSCVGAVG ILALVSFTCV SYAVTKAHPA LVCAVLHSEV VVALILQYYM 310 320 330 LHETVAPSDI VGAGVVLGSI AIITAWNLSC EREGKVEE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed: 16625196] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"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.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AC113189 Genomic DNA. No translation available.
IPI	IPI00334736.
RefSeq	NP_001096084.1.
UniGene	Hs.632234
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENST00000412468; ENSP00000396523; ENSG00000231260; Homo sapiens. [Genome view]
GeneID	643664.
KEGG	hsa:643664.
UCSC	uc010cmj.1. human.
Organism-specific databases
CTD	643664.
GeneCards	GC17P007325.
HGNC	HGNC:31351. AMAC1L3.
GenAtlas	Search...
Phylogenomic databases
OMA	PPDSTHP
OrthoDB	EOG9KPWWP
Gene expression databases
Bgee	P0C7Q6.
CleanEx	HS_AMAC1L3.
Genevestigator	P0C7Q6.
Family and domain databases
InterPro	IPR000620. DUF6_TM. [Graphical view]
Pfam	PF00892. DUF6. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	115206.

Entry information

Entry name

AMCL3_HUMAN

Accession

Primary (citable) accession number: P0C7Q6

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 2008
Last sequence update:	July 1, 2008
Last modified:	November 24, 2009
This is version 14 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.