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Q8N1P7

- AIM1L_HUMAN

UniProt

Q8N1P7 - AIM1L_HUMAN

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Protein
Absent in melanoma 1-like protein
Gene
AIM1L, CRYBG2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript leveli

Functioni

Keywords - Ligandi

Lectin

Protein family/group databases

CAZyiCBM13. Carbohydrate-Binding Module Family 13.

Names & Taxonomyi

Protein namesi
Recommended name:
Absent in melanoma 1-like protein
Alternative name(s):
Beta/gamma crystallin domain-containing protein 2
Gene namesi
Name:AIM1L
Synonyms:CRYBG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:17295. AIM1L.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24650.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 616616Absent in melanoma 1-like protein
PRO_0000285105Add
BLAST

Proteomic databases

MaxQBiQ8N1P7.
PaxDbiQ8N1P7.
PRIDEiQ8N1P7.

PTM databases

PhosphoSiteiQ8N1P7.

Expressioni

Gene expression databases

ArrayExpressiQ8N1P7.
BgeeiQ8N1P7.
CleanExiHS_AIM1L.
GenevestigatoriQ8N1P7.

Organism-specific databases

HPAiHPA029629.
HPA029631.

Interactioni

Protein-protein interaction databases

BioGridi120378. 1 interaction.
STRINGi9606.ENSP00000409834.

Structurei

3D structure databases

ProteinModelPortaliQ8N1P7.
SMRiQ8N1P7. Positions 28-476.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini28 – 6841Beta/gamma crystallin 'Greek key' 1
Add
BLAST
Domaini69 – 11143Beta/gamma crystallin 'Greek key' 2
Add
BLAST
Domaini123 – 16846Beta/gamma crystallin 'Greek key' 3
Add
BLAST
Domaini169 – 21143Beta/gamma crystallin 'Greek key' 4
Add
BLAST
Domaini217 – 25741Beta/gamma crystallin 'Greek key' 5
Add
BLAST
Domaini258 – 30043Beta/gamma crystallin 'Greek key' 6
Add
BLAST
Domaini311 – 34838Beta/gamma crystallin 'Greek key' 7
Add
BLAST
Domaini349 – 39244Beta/gamma crystallin 'Greek key' 8
Add
BLAST
Domaini398 – 43841Beta/gamma crystallin 'Greek key' 9
Add
BLAST
Domaini439 – 48042Beta/gamma crystallin 'Greek key' 10
Add
BLAST
Domaini485 – 614130Ricin B-type lectin
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG43859.
HOGENOMiHOG000033869.
HOVERGENiHBG106499.
InParanoidiQ8N1P7.
PhylomeDBiQ8N1P7.

Family and domain databases

InterProiIPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamiPF00030. Crystall. 5 hits.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
PRINTSiPR01367. BGCRYSTALLIN.
SMARTiSM00458. RICIN. 1 hit.
SM00247. XTALbg. 5 hits.
[Graphical view]
SUPFAMiSSF49695. SSF49695. 3 hits.
SSF50370. SSF50370. 1 hit.
PROSITEiPS50915. CRYSTALLIN_BETA_GAMMA. 10 hits.
PS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8N1P7-1 [UniParc]FASTAAdd to Basket

« Hide

MELRTPGTKW SPQGIGSLRR VVWDYSTPEI SLFSEEGLKG EQVKLTEALK    50
NSQGLEKPLQ VASATVSAGL WLLYPKPLFE DTPYILEPGE YPTSEAWGTS 100
DPSVGSLKPM RLGCPSVEKP GEPRAVVYEA PGFQGRSWEV SRDIYNLQQP 150
EDSQSPHLAS VGSLRVLGGC WVGYEKEGFR GHQYLLEEGE YPDWSHWGGY 200
DELLTSLRVI RTDFGDPAVV LFEAMDFEGH GVEVSKALPD VELVQHGPST 250
QAIHVLSGVW VAYQEVGFSG EQYVLEKGVY RNCEDWGAGN STLASLQPVL 300
QVGEHDLHFV SKIQLFSRPD FLGDHFSFED DQAALPASFR PQSCRVHGGS 350
WILFDETNFE GDQHILSEGE FPTLTAMGCL ASTVLGSLQK VSLHFSEPSI 400
FLYGLECFEG KEIELSREVR SLQAEGFNNH VLSVRIKGGI WVLCEHSDFR 450
GRQWLVGSCE ITNWLTYSGT QRVGSLYPIK QRRVYFRLWN AALGGFLAVP 500
DHVEDMKAGR VVVADPQAGG SCIWYYEDGL LKNQMAPTMS LQVIGPPSPG 550
SKVVLWAESR LPRQTWSISE SGHICSQMFE GQILDVKGGR GYDRDHVVLW 600
EPDEDRASQI WTIHVL 616
Length:616
Mass (Da):68,646
Last modified:October 1, 2002 - v1
Checksum:iF82253C6D5EC17B8
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti249 – 2491S → N.
Corresponds to variant rs10751735 [ dbSNP | Ensembl ].
VAR_048835

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
RefSeqiNP_001034864.2. NM_001039775.3.
UniGeneiHs.128738.

Genome annotation databases

EnsembliENST00000308182; ENSP00000310435; ENSG00000176092.
GeneIDi55057.
KEGGihsa:55057.

Polymorphism databases

DMDMi74750904.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
RefSeqi NP_001034864.2. NM_001039775.3.
UniGenei Hs.128738.

3D structure databases

ProteinModelPortali Q8N1P7.
SMRi Q8N1P7. Positions 28-476.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120378. 1 interaction.
STRINGi 9606.ENSP00000409834.

Protein family/group databases

CAZyi CBM13. Carbohydrate-Binding Module Family 13.

PTM databases

PhosphoSitei Q8N1P7.

Polymorphism databases

DMDMi 74750904.

Proteomic databases

MaxQBi Q8N1P7.
PaxDbi Q8N1P7.
PRIDEi Q8N1P7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000308182 ; ENSP00000310435 ; ENSG00000176092 .
GeneIDi 55057.
KEGGi hsa:55057.

Organism-specific databases

CTDi 55057.
GeneCardsi GC01M026648.
HGNCi HGNC:17295. AIM1L.
HPAi HPA029629.
HPA029631.
neXtProti NX_Q8N1P7.
PharmGKBi PA24650.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG43859.
HOGENOMi HOG000033869.
HOVERGENi HBG106499.
InParanoidi Q8N1P7.
PhylomeDBi Q8N1P7.

Miscellaneous databases

GenomeRNAii 55057.
NextBioi 58545.
PROi Q8N1P7.

Gene expression databases

ArrayExpressi Q8N1P7.
Bgeei Q8N1P7.
CleanExi HS_AIM1L.
Genevestigatori Q8N1P7.

Family and domain databases

InterProi IPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
IPR000772. Ricin_B_lectin.
[Graphical view ]
Pfami PF00030. Crystall. 5 hits.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view ]
PRINTSi PR01367. BGCRYSTALLIN.
SMARTi SM00458. RICIN. 1 hit.
SM00247. XTALbg. 5 hits.
[Graphical view ]
SUPFAMi SSF49695. SSF49695. 3 hits.
SSF50370. SSF50370. 1 hit.
PROSITEi PS50915. CRYSTALLIN_BETA_GAMMA. 10 hits.
PS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.
    , 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.
    , 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].

Entry informationi

Entry nameiAIM1L_HUMAN
AccessioniPrimary (citable) accession number: Q8N1P7
Secondary accession number(s): B2RNG3, Q5T137, Q5T150
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: October 1, 2002
Last modified: June 11, 2014
This is version 96 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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