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Protein

Absent in melanoma 1-like protein

Gene

AIM1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

Complete GO annotation...

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 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:17295. AIM1L.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24650.

Polymorphism and mutation databases

BioMutaiAIM1L.
DMDMi74750904.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 616616Absent in melanoma 1-like proteinPRO_0000285105Add
BLAST

Proteomic databases

MaxQBiQ8N1P7.
PaxDbiQ8N1P7.
PRIDEiQ8N1P7.

PTM databases

PhosphoSiteiQ8N1P7.

Expressioni

Gene expression databases

BgeeiQ8N1P7.
CleanExiHS_AIM1L.
ExpressionAtlasiQ8N1P7. baseline and differential.
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.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 10 beta/gamma crystallin 'Greek key' domains.PROSITE-ProRule annotation
Contains 1 ricin B-type lectin domain.PROSITE-ProRule annotation

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

        10         20         30         40         50
MELRTPGTKW SPQGIGSLRR VVWDYSTPEI SLFSEEGLKG EQVKLTEALK
60 70 80 90 100
NSQGLEKPLQ VASATVSAGL WLLYPKPLFE DTPYILEPGE YPTSEAWGTS
110 120 130 140 150
DPSVGSLKPM RLGCPSVEKP GEPRAVVYEA PGFQGRSWEV SRDIYNLQQP
160 170 180 190 200
EDSQSPHLAS VGSLRVLGGC WVGYEKEGFR GHQYLLEEGE YPDWSHWGGY
210 220 230 240 250
DELLTSLRVI RTDFGDPAVV LFEAMDFEGH GVEVSKALPD VELVQHGPST
260 270 280 290 300
QAIHVLSGVW VAYQEVGFSG EQYVLEKGVY RNCEDWGAGN STLASLQPVL
310 320 330 340 350
QVGEHDLHFV SKIQLFSRPD FLGDHFSFED DQAALPASFR PQSCRVHGGS
360 370 380 390 400
WILFDETNFE GDQHILSEGE FPTLTAMGCL ASTVLGSLQK VSLHFSEPSI
410 420 430 440 450
FLYGLECFEG KEIELSREVR SLQAEGFNNH VLSVRIKGGI WVLCEHSDFR
460 470 480 490 500
GRQWLVGSCE ITNWLTYSGT QRVGSLYPIK QRRVYFRLWN AALGGFLAVP
510 520 530 540 550
DHVEDMKAGR VVVADPQAGG SCIWYYEDGL LKNQMAPTMS LQVIGPPSPG
560 570 580 590 600
SKVVLWAESR LPRQTWSISE SGHICSQMFE GQILDVKGGR GYDRDHVVLW
610
EPDEDRASQI WTIHVL
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. Curated
The sequence CAI15850.2 differs from that shown. Reason: Erroneous gene model prediction. Curated

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:
EMBLi
GenBanki
DDBJi
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.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ8N1P7.
SMRiQ8N1P7. Positions 28-476.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120378. 1 interaction.
STRINGi9606.ENSP00000409834.

Protein family/group databases

CAZyiCBM13. Carbohydrate-Binding Module Family 13.

PTM databases

PhosphoSiteiQ8N1P7.

Polymorphism and mutation databases

BioMutaiAIM1L.
DMDMi74750904.

Proteomic databases

MaxQBiQ8N1P7.
PaxDbiQ8N1P7.
PRIDEiQ8N1P7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55057.
GeneCardsiGC01M026648.
HGNCiHGNC:17295. AIM1L.
HPAiHPA029629.
HPA029631.
neXtProtiNX_Q8N1P7.
PharmGKBiPA24650.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG43859.
HOGENOMiHOG000033869.
HOVERGENiHBG106499.
InParanoidiQ8N1P7.
PhylomeDBiQ8N1P7.

Miscellaneous databases

GenomeRNAii55057.
NextBioi58545.
PROiQ8N1P7.

Gene expression databases

BgeeiQ8N1P7.
CleanExiHS_AIM1L.
ExpressionAtlasiQ8N1P7. baseline and differential.
GenevestigatoriQ8N1P7.

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]
ProtoNetiSearch...

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: April 29, 2015
This is version 100 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

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.