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Q8N1P7

- AIM1L_HUMAN

UniProt

Q8N1P7 - AIM1L_HUMAN

Protein

Absent in melanoma 1-like protein

Gene

AIM1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    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 proteinPRO_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.
    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

    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: October 1, 2014
    This is version 97 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