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Protein

ATP-binding cassette sub-family B member 9

Gene

ABCB9

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

Functioni

ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored.3 Publications

Caution

Has also been detected in the endoplasmic reticulum but appears to be a lysosomal protein in vivo.1 Publication

Kineticsi

  1. KM=6.8 µM for peptide RRYQNSTCL1 Publication

    pH dependencei

    Optimum pH is 7.0.1 Publication

    Temperature dependencei

    Optimum temperature is 37 degrees Celsius.1 Publication

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Nucleotide bindingi539 – 546ATPPROSITE-ProRule annotation8

    GO - Molecular functioni

    GO - Biological processi

    Keywordsi

    Biological processPeptide transport, Protein transport, Transport
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi3.6.3.43 2681
    ReactomeiR-HSA-382556 ABC-family proteins mediated transport
    SABIO-RKiQ9NP78

    Protein family/group databases

    TCDBi3.A.1.209.2 the atp-binding cassette (abc) superfamily

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family B member 9
    Alternative name(s):
    ATP-binding cassette transporter 9
    Short name:
    ABC transporter 9 protein
    Short name:
    hABCB9
    TAP-like protein
    Short name:
    TAPL
    Gene namesi
    Name:ABCB9
    Synonyms:KIAA1520
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 12

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000150967.17
    HGNCiHGNC:50 ABCB9
    MIMi605453 gene
    neXtProtiNX_Q9NP78

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transmembranei7 – 27HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei47 – 67HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei84 – 104HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei116 – 136HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei185 – 205HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei225 – 245HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei319 – 339HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei416 – 436HelicalPROSITE-ProRule annotationAdd BLAST21

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi136 – 137LL → AA: No effect on lysosomal localization. 1 Publication2

    Organism-specific databases

    DisGeNETi23457
    OpenTargetsiENSG00000150967
    PharmGKBiPA24391

    Chemistry databases

    ChEMBLiCHEMBL1293189

    Polymorphism and mutation databases

    BioMutaiABCB9
    DMDMi22095458

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00000002521 – 766ATP-binding cassette sub-family B member 9Add BLAST766

    Proteomic databases

    EPDiQ9NP78
    PaxDbiQ9NP78
    PeptideAtlasiQ9NP78
    PRIDEiQ9NP78
    ProteomicsDBi81917
    81918 [Q9NP78-2]
    81919 [Q9NP78-3]
    81920 [Q9NP78-5]
    81921 [Q9NP78-6]

    PTM databases

    iPTMnetiQ9NP78
    PhosphoSitePlusiQ9NP78

    Expressioni

    Tissue specificityi

    Highly expressed in testis, and at moderate levels in brain, spinal cord, and thyroid. Not expressed in monocytes but strongly expressed during differentiation of monocytes to dendritic cells and macrophages.2 Publications

    Inductioni

    Not induced by interferon-gamma.1 Publication

    Gene expression databases

    BgeeiENSG00000150967 Expressed in 204 organ(s), highest expression level in right hemisphere of cerebellum
    CleanExiHS_ABCB9
    ExpressionAtlasiQ9NP78 baseline and differential
    GenevisibleiQ9NP78 HS

    Organism-specific databases

    HPAiCAB033052
    HPA035113
    HPA035114

    Interactioni

    Subunit structurei

    Homodimer.1 Publication

    GO - Molecular functioni

    Protein-protein interaction databases

    BioGridi117021, 14 interactors
    STRINGi9606.ENSP00000280560

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NP78
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Domaini188 – 471ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST284
    Domaini504 – 740ABC transporterPROSITE-ProRule annotationAdd BLAST237

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Compositional biasi384 – 389Poly-Glu6

    Domaini

    The N-terminal region comprising the first four transmembrane domains is required for lysosomal localization but not for homodimerization or peptide transport.3 Publications

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG0058 Eukaryota
    COG1132 LUCA
    GeneTreeiENSGT00550000074497
    HOVERGENiHBG008358
    InParanoidiQ9NP78
    KOiK05656
    PhylomeDBiQ9NP78
    TreeFamiTF105197

    Family and domain databases

    Gene3Di1.20.1560.10, 1 hit
    InterProiView protein in InterPro
    IPR003593 AAA+_ATPase
    IPR011527 ABC1_TM_dom
    IPR036640 ABC1_TM_sf
    IPR003439 ABC_transporter-like
    IPR017871 ABC_transporter_CS
    IPR030254 ABCB9
    IPR027417 P-loop_NTPase
    IPR039421 Type_I_exporter
    PANTHERiPTHR24221 PTHR24221, 1 hit
    PTHR24221:SF242 PTHR24221:SF242, 1 hit
    PfamiView protein in Pfam
    PF00664 ABC_membrane, 1 hit
    PF00005 ABC_tran, 1 hit
    SMARTiView protein in SMART
    SM00382 AAA, 1 hit
    SUPFAMiSSF52540 SSF52540, 1 hit
    SSF90123 SSF90123, 1 hit
    PROSITEiView protein in PROSITE
    PS50929 ABC_TM1F, 1 hit
    PS00211 ABC_TRANSPORTER_1, 1 hit
    PS50893 ABC_TRANSPORTER_2, 1 hit

    Sequences (6+)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 6 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q9NP78-1) [UniParc]FASTAAdd to basket
    Also known as: 12A, c1-l

    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
    MRLWKAVVVT LAFMSVDICV TTAIYVFSHL DRSLLEDIRH FNIFDSVLDL
    60 70 80 90 100
    WAACLYRSCL LLGATIGVAK NSALGPRRLR ASWLVITLVC LFVGIYAMVK
    110 120 130 140 150
    LLLFSEVRRP IRDPWFWALF VWTYISLGAS FLLWWLLSTV RPGTQALEPG
    160 170 180 190 200
    AATEAEGFPG SGRPPPEQAS GATLQKLLSY TKPDVAFLVA ASFFLIVAAL
    210 220 230 240 250
    GETFLPYYTG RAIDGIVIQK SMDQFSTAVV IVCLLAIGSS FAAGIRGGIF
    260 270 280 290 300
    TLIFARLNIR LRNCLFRSLV SQETSFFDEN RTGDLISRLT SDTTMVSDLV
    310 320 330 340 350
    SQNINVFLRN TVKVTGVVVF MFSLSWQLSL VTFMGFPIIM MVSNIYGKYY
    360 370 380 390 400
    KRLSKEVQNA LARASNTAEE TISAMKTVRS FANEEEEAEV YLRKLQQVYK
    410 420 430 440 450
    LNRKEAAAYM YYVWGSGLTL LVVQVSILYY GGHLVISGQM TSGNLIAFII
    460 470 480 490 500
    YEFVLGDCME SVGSVYSGLM QGVGAAEKVF EFIDRQPTMV HDGSLAPDHL
    510 520 530 540 550
    EGRVDFENVT FTYRTRPHTQ VLQNVSFSLS PGKVTALVGP SGSGKSSCVN
    560 570 580 590 600
    ILENFYPLEG GRVLLDGKPI SAYDHKYLHR VISLVSQEPV LFARSITDNI
    610 620 630 640 650
    SYGLPTVPFE MVVEAAQKAN AHGFIMELQD GYSTETGEKG AQLSGGQKQR
    660 670 680 690 700
    VAMARALVRN PPVLILDEAT SALDAESEYL IQQAIHGNLQ KHTVLIIAHR
    710 720 730 740 750
    LSTVEHAHLI VVLDKGRVVQ QGTHQQLLAQ GGLYAKLVQR QMLGLQPAAD
    760
    FTAGHNEPVA NGSHKA
    Length:766
    Mass (Da):84,475
    Last modified:October 1, 2000 - v1
    Checksum:iC83FA62C929EC792
    GO
    Isoform 2 (identifier: Q9NP78-2) [UniParc]FASTAAdd to basket
    Also known as: c1-s

    The sequence of this isoform differs from the canonical sequence as follows:
         418-460: Missing.

    Show »
    Length:723
    Mass (Da):79,771
    Checksum:i8FEB1D7C16C59FBC
    GO
    Isoform 3 (identifier: Q9NP78-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         582-596: ISLVSQEPVLFARSI → VCARAWATLLRPFCI
         597-766: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:596
    Mass (Da):66,238
    Checksum:i9A6E46B08EE34D37
    GO
    Isoform 4 (identifier: Q9NP78-5) [UniParc]FASTAAdd to basket
    Also known as: 12B

    The sequence of this isoform differs from the canonical sequence as follows:
         681-683: IQQ → CAG
         684-766: Missing.

    Show »
    Length:683
    Mass (Da):75,402
    Checksum:i840FD3B6FBD9E86B
    GO
    Isoform 5 (identifier: Q9NP78-6) [UniParc]FASTAAdd to basket
    Also known as: 12C

    The sequence of this isoform differs from the canonical sequence as follows:
         682-766: Missing.

    Show »
    Length:681
    Mass (Da):75,284
    Checksum:iED56FBD9E86BA3D8
    GO
    Isoform 6 (identifier: Q9NP78-7) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         461-523: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:703
    Mass (Da):77,470
    Checksum:iEC9F3DAE5C28F419
    GO

    Computationally mapped potential isoform sequencesi

    There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    Q6P2Q0Q6P2Q0_HUMAN
    ABCB9 protein
    ABCB9
    769Annotation score:
    F5GX86F5GX86_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    182Annotation score:
    F5H5Q0F5H5Q0_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    115Annotation score:
    F5H5F9F5H5F9_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    222Annotation score:
    F5H7U2F5H7U2_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    277Annotation score:
    F5GYI2F5GYI2_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    260Annotation score:
    F5GXZ5F5GXZ5_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    145Annotation score:
    F5H0G0F5H0G0_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    272Annotation score:
    F5H5I5F5H5I5_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    65Annotation score:
    F5H4Y2F5H4Y2_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    156Annotation score:
    There is more potential isoformShow all

    Sequence cautioni

    The sequence BAA96044 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
    The sequence BAD66830 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_013701121V → M1 PublicationCorresponds to variant dbSNP:rs3803002Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_000027418 – 460Missing in isoform 2. 1 PublicationAdd BLAST43
    Alternative sequenceiVSP_044884461 – 523Missing in isoform 6. CuratedAdd BLAST63
    Alternative sequenceiVSP_000029582 – 596ISLVS…FARSI → VCARAWATLLRPFCI in isoform 3. 1 PublicationAdd BLAST15
    Alternative sequenceiVSP_000030597 – 766Missing in isoform 3. 1 PublicationAdd BLAST170
    Alternative sequenceiVSP_041884681 – 683IQQ → CAG in isoform 4. 1 Publication3
    Alternative sequenceiVSP_041885682 – 766Missing in isoform 5. 1 PublicationAdd BLAST85
    Alternative sequenceiVSP_041886684 – 766Missing in isoform 4. 1 PublicationAdd BLAST83

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AB045381 mRNA Translation: BAA97989.2
    AF216494 mRNA Translation: AAF89993.1
    AB112582 mRNA Translation: BAC98409.1
    AB112583 mRNA Translation: BAC98410.1
    AB177852 mRNA Translation: BAD66830.1 Different initiation.
    AB040953 mRNA Translation: BAA96044.2 Different initiation.
    AK304295 mRNA Translation: BAG65152.1
    AC026362 Genomic DNA No translation available.
    AC027290 Genomic DNA No translation available.
    BC017348 mRNA Translation: AAH17348.1
    CCDSiCCDS58286.1 [Q9NP78-7]
    CCDS58287.1 [Q9NP78-6]
    CCDS58288.1 [Q9NP78-5]
    CCDS9241.1 [Q9NP78-1]
    RefSeqiNP_001229942.1, NM_001243013.1 [Q9NP78-7]
    NP_001229943.1, NM_001243014.1 [Q9NP78-6]
    NP_062570.1, NM_019624.3 [Q9NP78-2]
    NP_062571.1, NM_019625.3 [Q9NP78-1]
    NP_982269.2, NM_203444.3 [Q9NP78-5]
    XP_011536397.1, XM_011538095.2 [Q9NP78-1]
    XP_011536398.1, XM_011538096.2 [Q9NP78-1]
    XP_016874592.1, XM_017019103.1 [Q9NP78-1]
    UniGeneiHs.511951

    Genome annotation databases

    EnsembliENST00000280560; ENSP00000280560; ENSG00000150967 [Q9NP78-1]
    ENST00000344275; ENSP00000456813; ENSG00000150967 [Q9NP78-6]
    ENST00000346530; ENSP00000280559; ENSG00000150967 [Q9NP78-2]
    ENST00000392439; ENSP00000376234; ENSG00000150967 [Q9NP78-1]
    ENST00000442833; ENSP00000456375; ENSG00000150967 [Q9NP78-5]
    ENST00000540285; ENSP00000441734; ENSG00000150967 [Q9NP78-7]
    ENST00000542678; ENSP00000440288; ENSG00000150967 [Q9NP78-1]
    GeneIDi23457
    KEGGihsa:23457
    UCSCiuc001udm.5 human [Q9NP78-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AB045381 mRNA Translation: BAA97989.2
    AF216494 mRNA Translation: AAF89993.1
    AB112582 mRNA Translation: BAC98409.1
    AB112583 mRNA Translation: BAC98410.1
    AB177852 mRNA Translation: BAD66830.1 Different initiation.
    AB040953 mRNA Translation: BAA96044.2 Different initiation.
    AK304295 mRNA Translation: BAG65152.1
    AC026362 Genomic DNA No translation available.
    AC027290 Genomic DNA No translation available.
    BC017348 mRNA Translation: AAH17348.1
    CCDSiCCDS58286.1 [Q9NP78-7]
    CCDS58287.1 [Q9NP78-6]
    CCDS58288.1 [Q9NP78-5]
    CCDS9241.1 [Q9NP78-1]
    RefSeqiNP_001229942.1, NM_001243013.1 [Q9NP78-7]
    NP_001229943.1, NM_001243014.1 [Q9NP78-6]
    NP_062570.1, NM_019624.3 [Q9NP78-2]
    NP_062571.1, NM_019625.3 [Q9NP78-1]
    NP_982269.2, NM_203444.3 [Q9NP78-5]
    XP_011536397.1, XM_011538095.2 [Q9NP78-1]
    XP_011536398.1, XM_011538096.2 [Q9NP78-1]
    XP_016874592.1, XM_017019103.1 [Q9NP78-1]
    UniGeneiHs.511951

    3D structure databases

    ProteinModelPortaliQ9NP78
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi117021, 14 interactors
    STRINGi9606.ENSP00000280560

    Chemistry databases

    ChEMBLiCHEMBL1293189

    Protein family/group databases

    TCDBi3.A.1.209.2 the atp-binding cassette (abc) superfamily

    PTM databases

    iPTMnetiQ9NP78
    PhosphoSitePlusiQ9NP78

    Polymorphism and mutation databases

    BioMutaiABCB9
    DMDMi22095458

    Proteomic databases

    EPDiQ9NP78
    PaxDbiQ9NP78
    PeptideAtlasiQ9NP78
    PRIDEiQ9NP78
    ProteomicsDBi81917
    81918 [Q9NP78-2]
    81919 [Q9NP78-3]
    81920 [Q9NP78-5]
    81921 [Q9NP78-6]

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000280560; ENSP00000280560; ENSG00000150967 [Q9NP78-1]
    ENST00000344275; ENSP00000456813; ENSG00000150967 [Q9NP78-6]
    ENST00000346530; ENSP00000280559; ENSG00000150967 [Q9NP78-2]
    ENST00000392439; ENSP00000376234; ENSG00000150967 [Q9NP78-1]
    ENST00000442833; ENSP00000456375; ENSG00000150967 [Q9NP78-5]
    ENST00000540285; ENSP00000441734; ENSG00000150967 [Q9NP78-7]
    ENST00000542678; ENSP00000440288; ENSG00000150967 [Q9NP78-1]
    GeneIDi23457
    KEGGihsa:23457
    UCSCiuc001udm.5 human [Q9NP78-1]

    Organism-specific databases

    CTDi23457
    DisGeNETi23457
    EuPathDBiHostDB:ENSG00000150967.17
    GeneCardsiABCB9
    HGNCiHGNC:50 ABCB9
    HPAiCAB033052
    HPA035113
    HPA035114
    MIMi605453 gene
    neXtProtiNX_Q9NP78
    OpenTargetsiENSG00000150967
    PharmGKBiPA24391
    HUGEiSearch...
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG0058 Eukaryota
    COG1132 LUCA
    GeneTreeiENSGT00550000074497
    HOVERGENiHBG008358
    InParanoidiQ9NP78
    KOiK05656
    PhylomeDBiQ9NP78
    TreeFamiTF105197

    Enzyme and pathway databases

    BRENDAi3.6.3.43 2681
    ReactomeiR-HSA-382556 ABC-family proteins mediated transport
    SABIO-RKiQ9NP78

    Miscellaneous databases

    GeneWikiiABCB9
    GenomeRNAii23457
    PROiPR:Q9NP78
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000150967 Expressed in 204 organ(s), highest expression level in right hemisphere of cerebellum
    CleanExiHS_ABCB9
    ExpressionAtlasiQ9NP78 baseline and differential
    GenevisibleiQ9NP78 HS

    Family and domain databases

    Gene3Di1.20.1560.10, 1 hit
    InterProiView protein in InterPro
    IPR003593 AAA+_ATPase
    IPR011527 ABC1_TM_dom
    IPR036640 ABC1_TM_sf
    IPR003439 ABC_transporter-like
    IPR017871 ABC_transporter_CS
    IPR030254 ABCB9
    IPR027417 P-loop_NTPase
    IPR039421 Type_I_exporter
    PANTHERiPTHR24221 PTHR24221, 1 hit
    PTHR24221:SF242 PTHR24221:SF242, 1 hit
    PfamiView protein in Pfam
    PF00664 ABC_membrane, 1 hit
    PF00005 ABC_tran, 1 hit
    SMARTiView protein in SMART
    SM00382 AAA, 1 hit
    SUPFAMiSSF52540 SSF52540, 1 hit
    SSF90123 SSF90123, 1 hit
    PROSITEiView protein in PROSITE
    PS50929 ABC_TM1F, 1 hit
    PS00211 ABC_TRANSPORTER_1, 1 hit
    PS50893 ABC_TRANSPORTER_2, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiABCB9_HUMAN
    AccessioniPrimary (citable) accession number: Q9NP78
    Secondary accession number(s): B4E2J0
    , Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9P208
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 2, 2002
    Last sequence update: October 1, 2000
    Last modified: November 7, 2018
    This is version 174 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
      Index of protein domains and families
    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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
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