Human Metabolome Database: Showing Protein Pleckstrin homology domain-containing family M member 1 (HMDBP10957)

Identification Biological properties Gene properties Protein properties External links References XML Show 9288 metabolites

Identification

HMDB Protein ID

HMDBP10957

Secondary Accession Numbers

17270

Name

Pleckstrin homology domain-containing family M member 1

Synonyms

162 kDa adapter protein
AP162
PH domain-containing family M member 1

Gene Name

PLEKHM1

Protein Type

Unknown

Biological Properties

General Function

Involved in intracellular signaling pathway

Specific Function

Involved in vesicular transport in the osteoclast. May have a role in sialyl-lex-mediated transduction of apoptotic signals

Pathways

Not Available

Reactions

Not Available

GO Classification

Process
intracellular signaling pathway
signaling
signaling pathway

Cellular Location

Cytoplasm (Potential)

Gene Properties

Chromosome Location

Chromosome:1

Locus

17q21.31

SNPs

PLEKHM1

Gene Sequence

>3171 bp
ATGCTTTCAGTGGTGGAGAATGGACTGGACCCCCAGGCTGCCATCCCGGTCATCAAGAAG
AAGCTGGTGGGATCCGTGAAGGCCTTGCAGAAGCAGTACGTGTCCCTGGACACGGTGGTC
ACTAGTGAAGACGGAGATGCCAACACCATGTGCAGCGCCCTGGAGGCCGTATTTATCCAT
GGCCTGCACGCCAAGCACATCCGAGCTGAGGCCGGAGGAAAAAGGAAGAAAAGTGCCCAC
CAGAAGCCTCTGCCCCAGCCTGTCTTCTGGCCCCTCCTGAAAGCTGTCACCCACAAACAC
ATCATCTCAGAGTTGGAGCACCTGACGTTTGTCAACACGGATGTGGGCCGCTGCCGGGCA
TGGCTGCGGCTGGCCCTGAACGATGGCCTGATGGAGTGCTACCTGAAGCTGCTGCTGCAG
GAGCAGGCCCGCTTGCATGAGTACTACCAGCCCACCGCCCTGCTCCGGGATGCTGAGGAG
GGCGAGTTCCTCCTTAGCTTCCTGCAGGGCCTCACGTCCTTGTCCTTCGAACTCTCCTAC
AAGTCTGCCATCTTAAATGAGTGGACGCTCACCCCATTGGCCCTGTCTGGGCTTTGCCCG
CTTTCTGAGCTGGACCCTCTCTCTACCTCTGGTGCAGAACTACAGCGGAAGGAATCTCTG
GATTCCATTTCCCATTCTTCAGGCTCTGAAGACATCGAAGTCCATCACTCGGGCCATAAG
ATACGGAGGAACCAGAAGCTGACTGCCTCCTCCCTCAGCCTGGACACGGCCAGTTCATCC
CAGCTGTCCTGCAGCCTAAACTCTGATAGCTGCTTACTCCAAGAGAATGGCTCCAAGAGT
CCAGACCATTGCGAGGAGCCCATGTCCTGTGACTCAGACCTGGGCACAGCAAATGCTGAG
GACTCAGACCGGTCTCTGCAAGAGGTATTGTTGGAATTCAGCAAAGCCCAGGTAAACTCT
GTGCCAACCAACGGACTGAGCCAAGAAACAGAGATCCCCACACCACAGGCCTCGCTCTCC
CTCCATGGCCTCAACACCAGCACATACCTGCACTGTGAGGCACCTGCAGAGCCCCTTCCT
GCCCAGGCAGCCTCTGGAACTCAAGATGGTGTCCACGTGCAGGAGCCGCGTCCCCAGGCG
CCCAGCCCCCTGGACTTACAGCAGCCTGTAGAGAGCACCTCAGGCCAGCAGCCTTCTAGT
ACTGTCAGCGAGACAGCCAGAGAAGTGGGCCAAGGGAATGGCCTGCAGAAGGCCCAGGCT
CATGACGGAGCTGGTCTGAAGCTGGTAGTTTCCTCACCCACCAGTCCGAAAAACAAGAGC
TGGATCTCAGAGGATGACTTCTACCGGCCTTCCCGGGAGCAACCCCTGGAGAGTGCTTCA
GACCACCCAATAGCTTCTTACAGGGGGACTCCAGGGTCAAGGCCTGGTCTCCACAGGCAT
TTTTCTCAAGAACCAAGAAAAAACTGCTCCCTGGGGGCGTTAGACCAAGCGTGTGTACCT
TCCCCAGGAAGAAGGCAAGCCCAGGCAGCCCCATCCCAGGGGCATAAGAGCTTCCGGGTG
GTACACCGGAGACAGATGGGACTGTCCAACCCATTCCGGGGTCTCATGAAGCTGGGCACC
GTGGAGCGGCGGGGGGCAATGGGCATCTGGAAGGAGCTCTTCTGCGAGCTCTCCCCGCTG
GAGTTCCGCCTCTACCTGAGCAACGAGGAGCACACCTGTGTGGAGAACTGCTCGCTGCTT
CGCTGTGAGTCTGTGGGGCCAGCCCATAGTGATGGGCGCTTTGAGCTGGTCTTCTCTGGC
AAGAAGCTGGCCCTGCGCGCCTCCTCCCAGGACGAAGCTGAGGACTGGCTGGACCGGGTG
CGGGAGGCCCTGCAGAAGGTCCGGCCTCAGCAGGAGGATGAGTGGGTGAACGTGCAGTAC
CCAGACCAGCCTGAGGAACCCCCCGAGGCGCCCCAGGGCTGCCTCTCTCCCTCAGACCTG
CTCTCGGAGCCCGCGGCCCTCCAGGGCACACAGTTTGACTGGTCGTCCGCCCAGGTTCCA
GAGCCAGATGCCATCAAGGAGTCCCTGCTGTACTTGTACATGGACAGGACCTGGATGCCC
TATATATTTTCTCTGTCCTTGGAGGCTCTGAAATGTTTCCGCATCAGGAACAATGAGAAG
ATGCTGAGTGACAGCCACGGCGTGGAGACCATCCGGGACATCCTGCCAGACACCAGCCTT
GGGGGCCCATCCTTCTTCAAAATCATCACGGCCAAGGCTGTCCTGAAGCTGCAGGCCGGA
AACGCCGAGGAAGCCGCCCTGTGGAGGGATCTGGTCCGCAAAGTCCTGGCATCCTACTTG
GAGACAGCCGAGGAGGCGGTGACCCTGGGCGGGAGCCTGGATGAAAACTGTCAGGAGGTG
CTGAAATTTGCCACCCGGGAGAATGGCTTCCTGCTGCAGTACCTGGTGGCTATCCCCATG
GAGAAAGGCCTTGACTCCCAAGGCTGCTTCTGCGCAGGCTGCTCCCGGCAGATCGGCTTC
TCCTTTGTACGACCCAAGCTCTGTGCCTTCTCTGGCCTCTATTACTGTGACATCTGCCAC
CAAGACGATGCCTCAGTGATTCCGGCCAGGATCATCCACAACTGGGACCTCACCAAGCGC
CCGATCTGCAGGCAGGCCCTGAAGTTTCTGACACAGATCCGGGCCCAGCCCCTCATCAAC
CTGCAGATGGTGAACGCGTCTCTGTACGAGCATGTGGAGCGGATGCACCTCATTGGGAGG
AGACGGGAGCAGCTGAAGCTCCTGGGGGATTACCTGGGCCTGTGCCGGAGTGGCGCCCTG
AAGGAGCTCAGCAAGAGGCTCAACCACAGGAATTATCTCTTGGAATCTCCGCATAGGTTC
AGTGTTGCTGACCTCCAACAGATCGCAGACGGGGTGTATGAAGGATTCCTCAAGGCCCTG
ATTGAATTTGCCTCCCAGCATGTCTACCACTGCGACCTGTGCACCCAGCGCGGCTTCATC
TGCCAGATCTGCCAGCACCACGACATCATCTTCCCCTTTGAGTTTGACACCACAGTCAGG
TGTGCCGAGTGCAAGACCGTCTTCCACCAGAGCTGCCAGGCTGTGGTGAAGAAGGGCTGC
CCCCGCTGTGCCCGCCGGCGCAAGTACCAGGAACAGAACATTTTCGCCTGA

Protein Properties

Number of Residues

1056

Molecular Weight

117442.0

Theoretical pI

6.5

Pfam Domain Function

RUN (PF02759 )

Signals

None

Transmembrane Regions

None

Protein Sequence

>Pleckstrin homology domain-containing family M member 1
MLSVVENGLDPQAAIPVIKKKLVGSVKALQKQYVSLDTVVTSEDGDANTMCSALEAVFIH
GLHAKHIRAEAGGKRKKSAHQKPLPQPVFWPLLKAVTHKHIISELEHLTFVNTDVGRCRA
WLRLALNDGLMECYLKLLLQEQARLHEYYQPTALLRDAEEGEFLLSFLQGLTSLSFELSY
KSAILNEWTLTPLALSGLCPLSELDPLSTSGAELQRKESLDSISHSSGSEDIEVHHSGHK
IRRNQKLTASSLSLDTASSSQLSCSLNSDSCLLQENGSKSPDHCEEPMSCDSDLGTANAE
DSDRSLQEVLLEFSKAQVNSVPTNGLSQETEIPTPQASLSLHGLNTSTYLHCEAPAEPLP
AQAASGTQDGVHVQEPRPQAPSPLDLQQPVESTSGQQPSSTVSETAREVGQGNGLQKAQA
HDGAGLKLVVSSPTSPKNKSWISEDDFYRPSREQPLESASDHPIASYRGTPGSRPGLHRH
FSQEPRKNCSLGALDQACVPSPGRRQAQAAPSQGHKSFRVVHRRQMGLSNPFRGLMKLGT
VERRGAMGIWKELFCELSPLEFRLYLSNEEHTCVENCSLLRCESVGPAHSDGRFELVFSG
KKLALRASSQDEAEDWLDRVREALQKVRPQQEDEWVNVQYPDQPEEPPEAPQGCLSPSDL
LSEPAALQGTQFDWSSAQVPEPDAIKESLLYLYMDRTWMPYIFSLSLEALKCFRIRNNEK
MLSDSHGVETIRDILPDTSLGGPSFFKIITAKAVLKLQAGNAEEAALWRDLVRKVLASYL
ETAEEAVTLGGSLDENCQEVLKFATRENGFLLQYLVAIPMEKGLDSQGCFCAGCSRQIGF
SFVRPKLCAFSGLYYCDICHQDDASVIPARIIHNWDLTKRPICRQALKFLTQIRAQPLIN
LQMVNASLYEHVERMHLIGRRREQLKLLGDYLGLCRSGALKELSKRLNHRNYLLESPHRF
SVADLQQIADGVYEGFLKALIEFASQHVYHCDLCTQRGFICQICQHHDIIFPFEFDTTVR
CAECKTVFHQSCQAVVKKGCPRCARRRKYQEQNIFA

External Links

GenBank ID Protein

40538728

UniProtKB/Swiss-Prot ID

Q9Y4G2

UniProtKB/Swiss-Prot Entry Name

PKHM1_HUMAN

PDB IDs

Not Available

GenBank Gene ID

GeneCard ID

GenAtlas ID

HGNC ID

References

General References

Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 1997 Apr 28;4(2):141-50. [PubMed:9205841 ]
Hartel-Schenk S, Gratchev A, Hanski ML, Ogorek D, Trendelenburg G, Hummel M, Hopfner M, Scherubl H, Zeitz M, Hanski C: Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway. Glycoconj J. 2001 Nov-Dec;18(11-12):915-23. [PubMed:12820725 ]
Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W: Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. J Clin Invest. 2007 Apr;117(4):919-30. [PubMed:17404618 ]