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Q8IWT6 (LRC8A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Volume-regulated anion channel subunit LRRC8A
Alternative name(s):
Leucine-rich repeat-containing protein 8A
Swelling protein 1
Gene names
Name:LRRC8A
Synonyms:KIAA1437, LRRC8, SWELL1
ORF Names:UNQ221/PRO247
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length810 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. It is unclear whether LRRC8A constitutes a pore-forming subunit or whether it is closely associated with the pore and mediates channel properties such as ion selectivity. Involved in B-cell development: required for the pro-B cell to pre-B cell transition. Also required for T-cell development. Ref.1 Ref.13 Ref.15

Subunit structure

Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8B, LRRC8C, LRRC8D and/or LRRC8E), possibly to form a heterohexamer. Ref.15

Subcellular location

Cell membrane; Multi-pass membrane protein Ref.13 Ref.14 Ref.15.

Tissue specificity

Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells. Ref.1 Ref.2

Post-translational modification

N-glycosylated. Ref.15

Involvement in disease

Agammaglobulinemia 5, autosomal dominant (AGM5) [MIM:613506]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Note: The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains. Ref.1

Sequence similarities

Belongs to the LRRC8 family.

Contains 17 LRR (leucine-rich) repeats.

Sequence caution

The sequence AAQ88653.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAA92675.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAC11161.1 differs from that shown. Reason: Erroneous initiation.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 810810Volume-regulated anion channel subunit LRRC8A
PRO_0000084499

Regions

Topological domain1 – 2525Cytoplasmic Potential
Transmembrane26 – 4520Helical; Potential
Topological domain46 – 12378Extracellular Potential
Transmembrane124 – 14623Helical; Potential
Topological domain147 – 262116Cytoplasmic Potential
Transmembrane263 – 28523Helical; Potential
Topological domain286 – 31934Extracellular Potential
Transmembrane320 – 34223Helical; Potential
Topological domain343 – 810468Cytoplasmic Potential
Repeat373 – 40129LRR 1
Repeat402 – 42423LRR 2
Repeat425 – 44723LRR 3
Repeat448 – 47023LRR 4
Repeat471 – 49424LRR 5
Repeat495 – 51824LRR 6
Repeat519 – 54527LRR 7
Repeat546 – 56823LRR 8
Repeat569 – 59224LRR 9
Repeat593 – 61523LRR 10
Repeat616 – 64025LRR 11
Repeat641 – 66323LRR 12
Repeat664 – 68623LRR 13
Repeat687 – 70620LRR 14
Repeat707 – 73226LRR 15
Repeat733 – 75523LRR 16
Repeat756 – 77722LRR 17

Amino acid modifications

Modified residue11N-acetylmethionine Ref.5 Ref.12
Modified residue2171Phosphoserine Ref.9 Ref.10
Glycosylation661N-linked (GlcNAc...) Potential
Glycosylation831N-linked (GlcNAc...) Potential

Experimental info

Mutagenesis441T → A or C: Altered anion selectivity. Ref.13
Mutagenesis661N → A: Abolishes N-glycosylation; when associated with A-83. Ref.15
Mutagenesis831N → A: Abolishes N-glycosylation; when associated with A-66. Ref.15
Sequence conflict3231S → P in BAC11161. Ref.7
Sequence conflict7441Q → R in BAC11161. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Q8IWT6 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: E0C5E6EBEE8275E8

FASTA81094,199
        10         20         30         40         50         60 
MIPVTELRYF ADTQPAYRIL KPWWDVFTDY ISIVMLMIAV FGGTLQVTQD KMICLPCKWV 

        70         80         90        100        110        120 
TKDSCNDSFR GWAAPGPEPT YPNSTILPTP DTGPTGIKYD LDRHQYNYVD AVCYENRLHW 

       130        140        150        160        170        180 
FAKYFPYLVL LHTLIFLACS NFWFKFPRTS SKLEHFVSIL LKCFDSPWTT RALSETVVEE 

       190        200        210        220        230        240 
SDPKPAFSKM NGSMDKKSST VSEDVEATVP MLQRTKSRIE QGIVDRSETG VLDKKEGEQA 

       250        260        270        280        290        300 
KALFEKVKKF RTHVEEGDIV YRLYMRQTII KVIKFILIIC YTVYYVHNIK FDVDCTVDIE 

       310        320        330        340        350        360 
SLTGYRTYRC AHPLATLFKI LASFYISLVI FYGLICMYTL WWMLRRSLKK YSFESIREES 

       370        380        390        400        410        420 
SYSDIPDVKN DFAFMLHLID QYDPLYSKRF AVFLSEVSEN KLRQLNLNNE WTLDKLRQRL 

       430        440        450        460        470        480 
TKNAQDKLEL HLFMLSGIPD TVFDLVELEV LKLELIPDVT IPPSIAQLTG LKELWLYHTA 

       490        500        510        520        530        540 
AKIEAPALAF LRENLRALHI KFTDIKEIPL WIYSLKTLEE LHLTGNLSAE NNRYIVIDGL 

       550        560        570        580        590        600 
RELKRLKVLR LKSNLSKLPQ VVTDVGVHLQ KLSINNEGTK LIVLNSLKKM ANLTELELIR 

       610        620        630        640        650        660 
CDLERIPHSI FSLHNLQEID LKDNNLKTIE EIISFQHLHR LTCLKLWYNH IAYIPIQIGN 

       670        680        690        700        710        720 
LTNLERLYLN RNKIEKIPTQ LFYCRKLRYL DLSHNNLTFL PADIGLLQNL QNLAITANRI 

       730        740        750        760        770        780 
ETLPPELFQC RKLRALHLGN NVLQSLPSRV GELTNLTQIE LRGNRLECLP VELGECPLLK 

       790        800        810 
RSGLVVEEDL FNTLPPEVKE RLWRADKEQA 

« Hide

References

« Hide 'large scale' references
[1]"A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans."
Sawada A., Takihara Y., Kim J.Y., Matsuda-Hashii Y., Tokimasa S., Fujisaki H., Kubota K., Endo H., Onodera T., Ohta H., Ozono K., Hara J.
J. Clin. Invest. 112:1707-1713(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION, INVOLVEMENT IN AGM5.
[2]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], TISSUE SPECIFICITY.
Tissue: Brain.
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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].
Tissue: Pancreas.
[5]Bienvenut W.V., Pchelintsev N., Adams P.D.
Submitted (OCT-2009) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 1-8; 483-492; 534-541 AND 735-749, ACETYLATION AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Lung fibroblast.
[6]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 239-810.
[7]"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] OF 259-810.
[8]"LRRC8 extracellular domain is composed of 17 leucine-rich repeats."
Smits G., Kajava A.V.
Mol. Immunol. 41:561-562(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: DOMAINS LEUCINE-RICH REPEATS.
[9]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-217, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-217, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"LRRC8 proteins share a common ancestor with pannexins, and may form hexameric channels involved in cell-cell communication."
Abascal F., Zardoya R.
Bioessays 34:551-560(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
[12]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"SWELL1, a plasma membrane protein, is an essential component of volume-regulated anion channel."
Qiu Z., Dubin A.E., Mathur J., Tu B., Reddy K., Miraglia L.J., Reinhardt J., Orth A.P., Patapoutian A.
Cell 157:447-458(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF THR-44.
[14]"The protein synthesis inhibitor blasticidin S enters mammalian cells via leucine-rich repeat-containing protein 8D."
Lee C.C., Freinkman E., Sabatini D.M., Ploegh H.L.
J. Biol. Chem. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TOPOLOGY.
[15]"Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC."
Voss F.K., Ullrich F., Muench J., Lazarow K., Lutter D., Mah N., Andrade-Navarro M.A., von Kries J.P., Stauber T., Jentsch T.J.
Science 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, TOPOLOGY, GLYCOSYLATION, MUTAGENESIS OF ASN-66 AND ASN-83.
+Additional computationally mapped references.

Web resources

LRRC8Abase

LRRC8A mutation db

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY143166 mRNA. Translation: AAN18279.1.
AB037858 mRNA. Translation: BAA92675.1. Different initiation.
AL672142 Genomic DNA. Translation: CAI10839.1.
BC051322 mRNA. Translation: AAH51322.1.
AY358286 mRNA. Translation: AAQ88653.1. Different initiation.
AK074723 mRNA. Translation: BAC11161.1. Different initiation.
CCDSCCDS35155.1.
RefSeqNP_001120716.1. NM_001127244.1.
NP_001120717.1. NM_001127245.1.
NP_062540.2. NM_019594.3.
XP_005252152.1. XM_005252095.1.
XP_005252153.1. XM_005252096.1.
XP_006717249.1. XM_006717186.1.
UniGeneHs.643600.

3D structure databases

ProteinModelPortalQ8IWT6.
SMRQ8IWT6. Positions 331-802.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121126. 3 interactions.

Protein family/group databases

TCDB1.A.25.3.1. the gap junction-forming innexin (innexin) family.

PTM databases

PhosphoSiteQ8IWT6.

Polymorphism databases

DMDM37537912.

Proteomic databases

MaxQBQ8IWT6.
PaxDbQ8IWT6.
PeptideAtlasQ8IWT6.
PRIDEQ8IWT6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000259324; ENSP00000259324; ENSG00000136802.
ENST00000372599; ENSP00000361680; ENSG00000136802.
ENST00000372600; ENSP00000361682; ENSG00000136802.
GeneID56262.
KEGGhsa:56262.
UCSCuc004bwl.4. human.

Organism-specific databases

CTD56262.
GeneCardsGC09P131644.
HGNCHGNC:19027. LRRC8A.
HPAHPA016811.
MIM608360. gene.
613506. phenotype.
neXtProtNX_Q8IWT6.
Orphanet33110. Autosomal agammaglobulinemia.
PharmGKBPA134909315.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4886.
HOGENOMHOG000231806.
HOVERGENHBG052360.
InParanoidQ8IWT6.
OMAHIAYIPM.
OrthoDBEOG7Z3F3T.
PhylomeDBQ8IWT6.
TreeFamTF331443.

Gene expression databases

ArrayExpressQ8IWT6.
BgeeQ8IWT6.
CleanExHS_LRRC8A.
GenevestigatorQ8IWT6.

Family and domain databases

InterProIPR001611. Leu-rich_rpt.
IPR025875. Leu-rich_rpt_4.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR021040. LRR_protein-8_N.
[Graphical view]
PfamPF12534. DUF3733. 2 hits.
PF12799. LRR_4. 1 hit.
PF13855. LRR_8. 2 hits.
[Graphical view]
SMARTSM00369. LRR_TYP. 2 hits.
[Graphical view]
PROSITEPS51450. LRR. 11 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLRRC8A. human.
GeneWikiLRRC8A.
GenomeRNAi56262.
NextBio61921.
PROQ8IWT6.
SOURCESearch...

Entry information

Entry nameLRC8A_HUMAN
AccessionPrimary (citable) accession number: Q8IWT6
Secondary accession number(s): Q6UXM2, Q8NCI0, Q9P2B1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 116 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM