Reviewed, UniProtKB/Swiss-Prot Q9Y4X0 (AMER1_HUMAN)

Names and origin

Protein names

Recommended name:
    AMME syndrome candidate gene 1 protein

Gene names

Name:

AMMECR1

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

General annotation (Comments)

Involvement in disease	Defects in AMMECR1 may be a cause of AMME complex [MIM:300194]; also known as Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis. The AMME complex is a contiguous gene deletion syndrome.
Sequence similarities	Contains 1 AMMECR1 domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Disease	Alport syndrome Elliptocytosis Hereditary hemolytic anemia Mental retardation
Technical term	Complete proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y4X0-1)

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: Q9Y4X0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     158-333: Missing.

Isoform 3 (identifier: Q9Y4X0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     159-195: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 333	333	AMME syndrome candidate gene 1 protein		PRO_0000142366
Regions
	Domain	119 – 313	195	AMMECR1
	Compositional bias	20 – 82	63	Gly/Ser-rich
	Compositional bias	105 – 121	17	Ser-rich
Natural variations
	Alternative sequence	158 – 333	176	Missing in isoform 2.		VSP_008516
	Alternative sequence	159 – 195	37	Missing in isoform 3.		VSP_017058

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: CE3942EFD6E55A8D	FASTA	333	35,463
	10 20 30 40 50 60 MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG TRLNGLGGLT 70 80 90 100 110 120 GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP AAATSSSPSS SSAASSSSPG 130 140 150 160 170 180 SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT PRFTNEPYPL FVTWKIGRDK RLRGCIGTFS 190 200 210 220 230 240 AMNLHSGLRE YTLTSALKDS RFPPMTRDEL PRLFCSVSLL TNFEDVCDYL DWEVGVHGIR 250 260 270 280 290 300 IEFINEKGSK RTATYLPEVA KEQGWDHIQT IDSLLRKGGY KAPITNEFRK TIKLTRYRSE 310 320 330 KMTLSYAEYL AHRQHHHFQN GIGHPLPPYN HYS
	Isoform 2. Checksum: DA197EC01872D3F5	FASTA	157	14,932
	10 20 30 40 50 60 MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG TRLNGLGGLT 70 80 90 100 110 120 GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP AAATSSSPSS SSAASSSSPG 130 140 150 SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT PRFTNEP
	Isoform 3. Checksum: 94B885A0007F8A09	FASTA	296	31,255
	10 20 30 40 50 60 MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG TRLNGLGGLT 70 80 90 100 110 120 GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP AAATSSSPSS SSAASSSSPG 130 140 150 160 170 180 SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT PRFTNEPYAL KDSRFPPMTR DELPRLFCSV 190 200 210 220 230 240 SLLTNFEDVC DYLDWEVGVH GIRIEFINEK GSKRTATYLP EVAKEQGWDH IQTIDSLLRK 250 260 270 280 290 GGYKAPITNE FRKTIKLTRY RSEKMTLSYA EYLAHRQHHH FQNGIGHPLP PYNHYS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME)." Vitelli F., Piccini M., Caroli F., Franco B., Malandrini A., Pober B., Jonsson J., Sorrentino V., Renieri A. Genomics 55:335-340(1999) [PubMed: 10049589] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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 3). Tissue: Placenta.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AJ007014 mRNA. Translation: CAB45546.1. AJ012221 , AJ012222, AJ012223, AJ012224, AJ012225, AJ012226 Genomic DNA. Translation: CAB58122.1. AJ012221, AJ012227 Genomic DNA. Translation: CAB58123.1. AL079334, AL031319, AL359079 Genomic DNA. Translation: CAI42538.1. AL359079, AL031319, AL079334 Genomic DNA. Translation: CAI41540.1. AL031319, AL079334, AL359079 Genomic DNA. Translation: CAI42704.1. BC060813 mRNA. Translation: AAH60813.1.
IPI	IPI00022258. IPI00375048. IPI00719771.
RefSeq	NP_001020751.1. NP_056180.1.
UniGene	Hs.656243
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9Y4X0.
Proteomic databases
PRIDE	Q9Y4X0.
Genome annotation databases
Ensembl	ENST00000262844; ENSP00000262844; ENSG00000101935; Homo sapiens. [Genome view]
GeneID	9949.
KEGG	hsa:9949.
UCSC	uc004eoo.1. human. uc004eop.1. human.
Organism-specific databases
CTD	9949.
GeneCards	GC0XM109247.
HGNC	HGNC:467. AMMECR1.
MIM	300194. phenotype. 300195. gene+phenotype.
Orphanet	86818. Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis.
PharmGKB	PA24772.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9Y4X0.
HOVERGEN	Q9Y4X0.
OMA	ADCSKMA
OrthoDB	EOG9M0HMQ
Gene expression databases
ArrayExpress	Q9Y4X0.
Bgee	Q9Y4X0.
CleanEx	HS_AMMECR1.
Genevestigator	Q9Y4X0.
GermOnline	ENSG00000101935. Homo sapiens.
Family and domain databases
InterPro	IPR002733. AMMECR1. [Graphical view]
Pfam	PF01871. AMMECR1. 1 hit. [Graphical view]
TIGRFAMs	TIGR00296. AMMECR1. 1 hit.
PROSITE	PS51112. AMMECR1. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	37540.
SOURCE	Search...

Entry information

Entry name

AMER1_HUMAN

Accession

Primary (citable) accession number: Q9Y4X0
Secondary accession number(s): Q6P9D8, Q8WX22, Q9UIQ8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 10, 2003
Last sequence update:	November 1, 1999
Last modified:	November 24, 2009
This is version 62 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.