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Q8N1P7 (AIM1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Absent in melanoma 1-like protein
Alternative name(s):
Beta/gamma crystallin domain-containing protein 2
Gene names
Name:AIM1L
Synonyms:CRYBG2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length616 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 10 beta/gamma crystallin 'Greek key' domains.

Contains 1 ricin B-type lectin domain.

Sequence caution

The sequence CAI15847.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI15850.2 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DomainRepeat
   LigandLectin
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 616616Absent in melanoma 1-like protein
PRO_0000285105

Regions

Domain28 – 6841Beta/gamma crystallin 'Greek key' 1
Domain69 – 11143Beta/gamma crystallin 'Greek key' 2
Domain123 – 16846Beta/gamma crystallin 'Greek key' 3
Domain169 – 21143Beta/gamma crystallin 'Greek key' 4
Domain217 – 25741Beta/gamma crystallin 'Greek key' 5
Domain258 – 30043Beta/gamma crystallin 'Greek key' 6
Domain311 – 34838Beta/gamma crystallin 'Greek key' 7
Domain349 – 39244Beta/gamma crystallin 'Greek key' 8
Domain398 – 43841Beta/gamma crystallin 'Greek key' 9
Domain439 – 48042Beta/gamma crystallin 'Greek key' 10
Domain485 – 614130Ricin B-type lectin

Natural variations

Natural variant2491S → N.
Corresponds to variant rs10751735 [ dbSNP | Ensembl ].
VAR_048835

Sequences

Sequence LengthMass (Da)Tools
Q8N1P7 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: F82253C6D5EC17B8

FASTA61668,646
        10         20         30         40         50         60 
MELRTPGTKW SPQGIGSLRR VVWDYSTPEI SLFSEEGLKG EQVKLTEALK NSQGLEKPLQ 

        70         80         90        100        110        120 
VASATVSAGL WLLYPKPLFE DTPYILEPGE YPTSEAWGTS DPSVGSLKPM RLGCPSVEKP 

       130        140        150        160        170        180 
GEPRAVVYEA PGFQGRSWEV SRDIYNLQQP EDSQSPHLAS VGSLRVLGGC WVGYEKEGFR 

       190        200        210        220        230        240 
GHQYLLEEGE YPDWSHWGGY DELLTSLRVI RTDFGDPAVV LFEAMDFEGH GVEVSKALPD 

       250        260        270        280        290        300 
VELVQHGPST QAIHVLSGVW VAYQEVGFSG EQYVLEKGVY RNCEDWGAGN STLASLQPVL 

       310        320        330        340        350        360 
QVGEHDLHFV SKIQLFSRPD FLGDHFSFED DQAALPASFR PQSCRVHGGS WILFDETNFE 

       370        380        390        400        410        420 
GDQHILSEGE FPTLTAMGCL ASTVLGSLQK VSLHFSEPSI FLYGLECFEG KEIELSREVR 

       430        440        450        460        470        480 
SLQAEGFNNH VLSVRIKGGI WVLCEHSDFR GRQWLVGSCE ITNWLTYSGT QRVGSLYPIK 

       490        500        510        520        530        540 
QRRVYFRLWN AALGGFLAVP DHVEDMKAGR VVVADPQAGG SCIWYYEDGL LKNQMAPTMS 

       550        560        570        580        590        600 
LQVIGPPSPG SKVVLWAESR LPRQTWSISE SGHICSQMFE GQILDVKGGR GYDRDHVVLW 

       610 
EPDEDRASQI WTIHVL 

« Hide

References

[1]"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. expand/collapse author list , 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].
Tissue: Tongue.
[2]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK095339 mRNA. Translation: BAC04533.1.
AL451139 Genomic DNA. Translation: CAI15847.1. Sequence problems.
AL451139 Genomic DNA. Translation: CAI15850.2. Sequence problems.
BC136870 mRNA. Translation: AAI36871.1.
RefSeqNP_001034864.2. NM_001039775.3.
UniGeneHs.128738.

3D structure databases

ProteinModelPortalQ8N1P7.
SMRQ8N1P7. Positions 28-613.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120378. 1 interaction.
STRING9606.ENSP00000409834.

Protein family/group databases

CAZyCBM13. Carbohydrate-Binding Module Family 13.

PTM databases

PhosphoSiteQ8N1P7.

Polymorphism databases

DMDM74750904.

Proteomic databases

PaxDbQ8N1P7.
PRIDEQ8N1P7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308182; ENSP00000310435; ENSG00000176092.
GeneID55057.
KEGGhsa:55057.

Organism-specific databases

CTD55057.
GeneCardsGC01M026648.
HGNCHGNC:17295. AIM1L.
HPAHPA029629.
HPA029631.
neXtProtNX_Q8N1P7.
PharmGKBPA24650.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43859.
HOGENOMHOG000033869.
HOVERGENHBG106499.
InParanoidQ8N1P7.
PhylomeDBQ8N1P7.

Gene expression databases

ArrayExpressQ8N1P7.
BgeeQ8N1P7.
CleanExHS_AIM1L.
GenevestigatorQ8N1P7.

Family and domain databases

InterProIPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamPF00030. Crystall. 5 hits.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
PRINTSPR01367. BGCRYSTALLIN.
SMARTSM00458. RICIN. 1 hit.
SM00247. XTALbg. 5 hits.
[Graphical view]
SUPFAMSSF49695. SSF49695. 3 hits.
SSF50370. SSF50370. 1 hit.
PROSITEPS50915. CRYSTALLIN_BETA_GAMMA. 10 hits.
PS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55057.
NextBio58545.
PROQ8N1P7.

Entry information

Entry nameAIM1L_HUMAN
AccessionPrimary (citable) accession number: Q8N1P7
Secondary accession number(s): B2RNG3, Q5T137, Q5T150
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: October 1, 2002
Last modified: March 19, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM