Q9Y4X0 (AMMR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
AMME syndrome candidate gene 1 protein

Gene names

Name:

AMMECR1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	333 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Involvement in disease	Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis. Note: The gene represented in this entry may be involved in disease pathogenesis.
Sequence similarities	Contains 1 AMMECR1 domain.

Ontologies

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

Alternative products

This entry describes 4 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.

Isoform 4 (identifier: Q9Y4X0-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-123: Missing.

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	1 – 123	123	Missing in isoform 4.		VSP_044229
	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 [UniParc]. 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 [UniParc]. 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
	Isoform 4 [UniParc]. Checksum: 1AB6F3351879FA49	FASTA	210	24,581
	10 20 30 40 50 60 MVVSAEMCCF CFDVLYCHLY GYQQPRTPRF TNEPYPLFVT WKIGRDKRLR GCIGTFSAMN 70 80 90 100 110 120 LHSGLREYTL TSALKDSRFP PMTRDELPRL FCSVSLLTNF EDVCDYLDWE VGVHGIRIEF 130 140 150 160 170 180 INEKGSKRTA TYLPEVAKEQ GWDHIQTIDS LLRKGGYKAP ITNEFRKTIK LTRYRSEKMT 190 200 210 LSYAEYLAHR QHHHFQNGIG HPLPPYNHYS

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Brain.
[3]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Placenta.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ007014 mRNA. Translation: CAB45546.1. AK091430 mRNA. Translation: BAG52359.1. AJ012221 , AJ012222, AJ012223, AJ012224, AJ012225, AJ012226 Genomic DNA. Translation: CAB58122.1. AJ012221, AJ012227 Genomic DNA. Translation: CAB58123.1. AL079334, AL031319, AL359079 Genomic DNA. Translation: CAI42537.1. AL079334, AL031319, AL359079 Genomic DNA. Translation: CAI42538.1. AL359079, AL031319, AL079334 Genomic DNA. Translation: CAI41539.1. AL359079, AL031319, AL079334 Genomic DNA. Translation: CAI41540.1. AL031319, AL079334, AL359079 Genomic DNA. Translation: CAI42703.1. AL031319, AL079334, AL359079 Genomic DNA. Translation: CAI42704.1. BC060813 mRNA. Translation: AAH60813.1.
IPI	IPI00022258. IPI00375048. IPI00719771.
RefSeq	NP_001020751.1. NM_001025580.1. NP_001165160.1. NM_001171689.1. NP_056180.1. NM_015365.2.
UniGene	Hs.656243.
3D structure databases
ProteinModelPortal	Q9Y4X0.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000262844.
PTM databases
PhosphoSite	Q9Y4X0.
Polymorphism databases
DMDM	48475039.
Proteomic databases
PaxDb	Q9Y4X0.
PRIDE	Q9Y4X0.
Protocols and materials databases
DNASU	9949.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262844; ENSP00000262844; ENSG00000101935. ENST00000372057; ENSP00000361127; ENSG00000101935. ENST00000372059; ENSP00000361129; ENSG00000101935.
GeneID	9949.
KEGG	hsa:9949.
UCSC	uc004eoo.3. human. uc004eop.3. human.
Organism-specific databases
CTD	9949.
GeneCards	GC0XM109437.
HGNC	HGNC:467. AMMECR1.
HPA	HPA051762.
MIM	300194. phenotype. 300195. gene+phenotype.
neXtProt	NX_Q9Y4X0.
Orphanet	86818. Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis.
PharmGKB	PA24772.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2078.
HOGENOM	HOG000223418.
HOVERGEN	HBG056408.
InParanoid	Q9Y4X0.
OMA	HLYGYQP.
OrthoDB	EOG4VMFFH.
PhylomeDB	Q9Y4X0.
Gene expression databases
ArrayExpress	Q9Y4X0.
Bgee	Q9Y4X0.
CleanEx	HS_AMMECR1.
Genevestigator	Q9Y4X0.
GermOnline	ENSG00000101935. Homo sapiens.
Family and domain databases
InterPro	IPR023473. AMMECR1. IPR002733. AMMECR1_domain. [Graphical view]
PANTHER	PTHR13016. PTHR13016. 1 hit.
Pfam	PF01871. AMMECR1. 1 hit. [Graphical view]
TIGRFAMs	TIGR00296. TIGR00296. 1 hit.
PROSITE	PS51112. AMMECR1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9949.
NextBio	37540.
SOURCE	Search...

Entry information

Entry name

AMMR1_HUMAN

Accession

Primary (citable) accession number: Q9Y4X0
Secondary accession number(s): Q5JYV9 , Q6P9D8, Q8WX22, Q9UIQ8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 10, 2003
Last sequence update:	November 1, 1999
Last modified:	May 1, 2013
This is version 90 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.