Skip Header

 
Contribute Send feedback
Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot Q96KT7 (AMCL2_HUMAN)

Last modified November 24, 2009. Version 39. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Protein AMAC1L2
Alternative name(s):
    Acyl-malonyl-condensing enzyme 1-like protein 2
Gene names
Name: AMAC1L2
Synonyms: AMAC
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length338 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence 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 componentMembrane
   Coding sequence diversityPolymorphism
   DomainRepeat
Transmembrane
   Technical termComplete proteome
Gene Ontology (GO)
   Cellular componentintegral to membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 338338Protein AMAC1L2
PRO_0000269556

Regions

Transmembrane37 – 5721 Potential
Transmembrane67 – 8721 Potential
Transmembrane102 – 12221 Potential
Transmembrane160 – 18021 Potential
Transmembrane190 – 21021 Potential
Transmembrane221 – 24121 Potential
Transmembrane250 – 27021 Potential
Transmembrane281 – 30121 Potential
Transmembrane305 – 32521 Potential
Domain49 – 174126DUF6 1
Domain272 – 32554DUF6 2

Natural variations

Natural variant461G → D: dbSNP rs6990563.
VAR_059579
Natural variant3071L → P: dbSNP rs12681991.
VAR_059580

Sequences

Sequence LengthMass (Da)Tools
Q96KT7-1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 8421C9A5E1E48D35

FASTA33835,161
        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 

« Hide

References

« Hide '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

AJ291677 mRNA. Translation: CAC82744.1.
BC131696 mRNA. Translation: AAI31697.1.
IPIIPI00064799.
RefSeqNP_473369.1.
UniGeneHs.458397

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGQ96KT7.

Proteomic databases

PRIDEQ96KT7.

Genome annotation databases

EnsemblENST00000382435; ENSP00000371872; ENSG00000177710; Homo sapiens. [Genome view]
GeneID83650.
KEGGhsa:83650.
UCSCuc003wtp.1. human.

Organism-specific databases

CTD83650.
GeneCardsGC08P011226.
HGNCHGNC:15546. AMAC1L2.
PharmGKBPA24756.
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ96KT7.
OMAWRERSEE
OrthoDBEOG9KPWWP

Gene expression databases

CleanExHS_AMAC1L2.
GenevestigatorQ96KT7.

Family and domain databases

InterProIPR000620. DUF6_TM.
[Graphical view]
PfamPF00892. DUF6. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio72611.

Entry information

Entry nameAMCL2_HUMAN
AccessionPrimary (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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
DisclaimerAny 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.

Relevant documents

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents