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Identification
HMDB Protein ID HMDBP10957
Secondary Accession Numbers
  • 17270
Name Pleckstrin homology domain-containing family M member 1
Synonyms
  1. 162 kDa adapter protein
  2. AP162
  3. 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
  1. 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
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
GenBank ID Protein 40538728
UniProtKB/Swiss-Prot ID Q9Y4G2
UniProtKB/Swiss-Prot Entry Name PKHM1_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_014798.2
GeneCard ID PLEKHM1
GenAtlas ID PLEKHM1
HGNC ID HGNC:29017
References
General References
  1. 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 ]
  2. 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 ]
  3. 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 ]
  4. 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 ]