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Protein

AMME syndrome candidate gene 1 protein

Gene

AMMECR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
AMME syndrome candidate gene 1 protein
Gene namesi
Name:AMMECR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:467. AMMECR1.

Pathology & Biotechi

Involvement in diseasei

Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR)

The gene represented in this entry may be involved in disease pathogenesis.

Disease descriptionA X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis.

See also OMIM:300194

Keywords - Diseasei

Alport syndrome, Deafness, Elliptocytosis, Hereditary hemolytic anemia, Mental retardation

Organism-specific databases

MIMi300194. phenotype.
Orphaneti86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
PharmGKBiPA24772.

Polymorphism and mutation databases

BioMutaiAMMECR1.
DMDMi48475039.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 333333AMME syndrome candidate gene 1 proteinPRO_0000142366Add
BLAST

Proteomic databases

MaxQBiQ9Y4X0.
PaxDbiQ9Y4X0.
PRIDEiQ9Y4X0.

PTM databases

PhosphoSiteiQ9Y4X0.

Expressioni

Gene expression databases

BgeeiQ9Y4X0.
CleanExiHS_AMMECR1.
GenevestigatoriQ9Y4X0.

Organism-specific databases

HPAiHPA051762.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ADAMTSL4Q6UY14-33EBI-8583355,EBI-10173507
Axin1O702393EBI-8583355,EBI-6857773From a different organism.
CALCOCO2Q131373EBI-8583355,EBI-739580
csnk1g1Q6NRT02EBI-8583355,EBI-8583566From a different organism.
LRP6O755815EBI-8583355,EBI-910915
RBPMSQ930623EBI-8583355,EBI-740322

Protein-protein interaction databases

BioGridi115274. 9 interactions.
IntActiQ9Y4X0. 11 interactions.
MINTiMINT-3086664.
STRINGi9606.ENSP00000262844.

Structurei

3D structure databases

ProteinModelPortaliQ9Y4X0.
SMRiQ9Y4X0. Positions 161-266.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini119 – 313195AMMECR1PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi20 – 8263Gly/Ser-richAdd
BLAST
Compositional biasi105 – 12117Ser-richAdd
BLAST

Sequence similaritiesi

Contains 1 AMMECR1 domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG2078.
GeneTreeiENSGT00390000010397.
HOGENOMiHOG000223418.
HOVERGENiHBG056408.
InParanoidiQ9Y4X0.
OMAiANVSRAN.
OrthoDBiEOG7PVWQN.
PhylomeDBiQ9Y4X0.
TreeFamiTF314680.

Family and domain databases

Gene3Di3.30.700.20. 1 hit.
InterProiIPR023473. AMMECR1.
IPR002733. AMMECR1_domain.
IPR027485. AMMECR1_N.
[Graphical view]
PANTHERiPTHR13016. PTHR13016. 1 hit.
PfamiPF01871. AMMECR1. 1 hit.
[Graphical view]
SUPFAMiSSF143447. SSF143447. 1 hit.
TIGRFAMsiTIGR00296. TIGR00296. 1 hit.
PROSITEiPS51112. AMMECR1. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y4X0-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG
60 70 80 90 100
TRLNGLGGLT GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP
110 120 130 140 150
AAATSSSPSS SSAASSSSPG SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT
160 170 180 190 200
PRFTNEPYPL FVTWKIGRDK RLRGCIGTFS AMNLHSGLRE YTLTSALKDS
210 220 230 240 250
RFPPMTRDEL PRLFCSVSLL TNFEDVCDYL DWEVGVHGIR IEFINEKGSK
260 270 280 290 300
RTATYLPEVA KEQGWDHIQT IDSLLRKGGY KAPITNEFRK TIKLTRYRSE
310 320 330
KMTLSYAEYL AHRQHHHFQN GIGHPLPPYN HYS
Length:333
Mass (Da):35,463
Last modified:November 1, 1999 - v1
Checksum:iCE3942EFD6E55A8D
GO
Isoform 2 (identifier: Q9Y4X0-2) [UniParc]FASTAAdd to basket

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

Show »
Length:157
Mass (Da):14,932
Checksum:iDA197EC01872D3F5
GO
Isoform 3 (identifier: Q9Y4X0-3) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.

Show »
Length:296
Mass (Da):31,255
Checksum:i94B885A0007F8A09
GO
Isoform 4 (identifier: Q9Y4X0-4) [UniParc]FASTAAdd to basket

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

Show »
Length:210
Mass (Da):24,581
Checksum:i1AB6F3351879FA49
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 123123Missing in isoform 4. 1 PublicationVSP_044229Add
BLAST
Alternative sequencei158 – 333176Missing in isoform 2. 1 PublicationVSP_008516Add
BLAST
Alternative sequencei159 – 19537Missing in isoform 3. 1 PublicationVSP_017058Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14551.1. [Q9Y4X0-1]
CCDS35368.1. [Q9Y4X0-3]
CCDS55476.1. [Q9Y4X0-4]
RefSeqiNP_001020751.1. NM_001025580.1. [Q9Y4X0-3]
NP_001165160.1. NM_001171689.1. [Q9Y4X0-4]
NP_056180.1. NM_015365.2. [Q9Y4X0-1]
UniGeneiHs.656243.

Genome annotation databases

EnsembliENST00000262844; ENSP00000262844; ENSG00000101935. [Q9Y4X0-1]
ENST00000372057; ENSP00000361127; ENSG00000101935. [Q9Y4X0-4]
ENST00000372059; ENSP00000361129; ENSG00000101935. [Q9Y4X0-3]
GeneIDi9949.
KEGGihsa:9949.
UCSCiuc004eoo.3. human. [Q9Y4X0-1]
uc004eop.3. human. [Q9Y4X0-3]

Polymorphism and mutation databases

BioMutaiAMMECR1.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14551.1. [Q9Y4X0-1]
CCDS35368.1. [Q9Y4X0-3]
CCDS55476.1. [Q9Y4X0-4]
RefSeqiNP_001020751.1. NM_001025580.1. [Q9Y4X0-3]
NP_001165160.1. NM_001171689.1. [Q9Y4X0-4]
NP_056180.1. NM_015365.2. [Q9Y4X0-1]
UniGeneiHs.656243.

3D structure databases

ProteinModelPortaliQ9Y4X0.
SMRiQ9Y4X0. Positions 161-266.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115274. 9 interactions.
IntActiQ9Y4X0. 11 interactions.
MINTiMINT-3086664.
STRINGi9606.ENSP00000262844.

PTM databases

PhosphoSiteiQ9Y4X0.

Polymorphism and mutation databases

BioMutaiAMMECR1.
DMDMi48475039.

Proteomic databases

MaxQBiQ9Y4X0.
PaxDbiQ9Y4X0.
PRIDEiQ9Y4X0.

Protocols and materials databases

DNASUi9949.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262844; ENSP00000262844; ENSG00000101935. [Q9Y4X0-1]
ENST00000372057; ENSP00000361127; ENSG00000101935. [Q9Y4X0-4]
ENST00000372059; ENSP00000361129; ENSG00000101935. [Q9Y4X0-3]
GeneIDi9949.
KEGGihsa:9949.
UCSCiuc004eoo.3. human. [Q9Y4X0-1]
uc004eop.3. human. [Q9Y4X0-3]

Organism-specific databases

CTDi9949.
GeneCardsiGC0XM109437.
HGNCiHGNC:467. AMMECR1.
HPAiHPA051762.
MIMi300194. phenotype.
300195. gene.
neXtProtiNX_Q9Y4X0.
Orphaneti86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
PharmGKBiPA24772.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG2078.
GeneTreeiENSGT00390000010397.
HOGENOMiHOG000223418.
HOVERGENiHBG056408.
InParanoidiQ9Y4X0.
OMAiANVSRAN.
OrthoDBiEOG7PVWQN.
PhylomeDBiQ9Y4X0.
TreeFamiTF314680.

Miscellaneous databases

ChiTaRSiAMMECR1. human.
GenomeRNAii9949.
NextBioi37540.
PROiQ9Y4X0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y4X0.
CleanExiHS_AMMECR1.
GenevestigatoriQ9Y4X0.

Family and domain databases

Gene3Di3.30.700.20. 1 hit.
InterProiIPR023473. AMMECR1.
IPR002733. AMMECR1_domain.
IPR027485. AMMECR1_N.
[Graphical view]
PANTHERiPTHR13016. PTHR13016. 1 hit.
PfamiPF01871. AMMECR1. 1 hit.
[Graphical view]
SUPFAMiSSF143447. SSF143447. 1 hit.
TIGRFAMsiTIGR00296. TIGR00296. 1 hit.
PROSITEiPS51112. AMMECR1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiAMMR1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4X0
Secondary accession number(s): Q5JYV9
, Q6P9D8, Q8WX22, Q9UIQ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: November 1, 1999
Last modified: April 29, 2015
This is version 107 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.